Details for: MPZ

Gene ID: 4359

Symbol: MPZ

Ensembl ID: ENSG00000158887

Description: myelin protein zero

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 22.9515
    Cell Significance Index: -3.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 11.3151
    Cell Significance Index: -2.8700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 8.0552
    Cell Significance Index: -3.2700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 3.4407
    Cell Significance Index: -3.2900
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 1.3362
    Cell Significance Index: 7.6000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.3065
    Cell Significance Index: -3.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7833
    Cell Significance Index: 149.0700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.4998
    Cell Significance Index: 7.0200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4837
    Cell Significance Index: 47.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4626
    Cell Significance Index: 75.2500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4120
    Cell Significance Index: 372.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2998
    Cell Significance Index: 32.6100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2970
    Cell Significance Index: 17.8300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1657
    Cell Significance Index: 9.3000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1636
    Cell Significance Index: 11.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0972
    Cell Significance Index: 12.4600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0967
    Cell Significance Index: 2.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0924
    Cell Significance Index: 18.5300
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.0906
    Cell Significance Index: 0.7200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0895
    Cell Significance Index: 1.4200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0642
    Cell Significance Index: 0.9200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0613
    Cell Significance Index: 2.7800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0595
    Cell Significance Index: 21.3500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0514
    Cell Significance Index: 1.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0509
    Cell Significance Index: 2.6700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0443
    Cell Significance Index: 0.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0360
    Cell Significance Index: 0.9800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0286
    Cell Significance Index: 0.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0260
    Cell Significance Index: 1.3500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0116
    Cell Significance Index: 0.7100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0100
    Cell Significance Index: 0.3500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0098
    Cell Significance Index: 1.9500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0062
    Cell Significance Index: 1.1200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0042
    Cell Significance Index: 0.2700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0016
    Cell Significance Index: 0.1000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0008
    Cell Significance Index: 0.1100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0004
    Cell Significance Index: 0.0100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0004
    Cell Significance Index: 0.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.3300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0002
    Cell Significance Index: -0.1100
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: -0.0004
    Cell Significance Index: 0.0000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0005
    Cell Significance Index: -0.9800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0009
    Cell Significance Index: -0.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0011
    Cell Significance Index: -1.6400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0019
    Cell Significance Index: -1.1800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0020
    Cell Significance Index: -0.8800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0026
    Cell Significance Index: -3.5100
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0036
    Cell Significance Index: -0.0500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0037
    Cell Significance Index: -1.7000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0038
    Cell Significance Index: -0.4500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0039
    Cell Significance Index: -2.9700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0039
    Cell Significance Index: -0.1100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0041
    Cell Significance Index: -3.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0043
    Cell Significance Index: -3.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0046
    Cell Significance Index: -2.5900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0050
    Cell Significance Index: -0.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0057
    Cell Significance Index: -0.7000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0080
    Cell Significance Index: -2.3100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0088
    Cell Significance Index: -1.2100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0151
    Cell Significance Index: -2.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0152
    Cell Significance Index: -1.5500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0164
    Cell Significance Index: -0.6200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0173
    Cell Significance Index: -0.9000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0178
    Cell Significance Index: -3.7500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0184
    Cell Significance Index: -1.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0199
    Cell Significance Index: -0.8800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0212
    Cell Significance Index: -2.4300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0213
    Cell Significance Index: -2.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0245
    Cell Significance Index: -1.1400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0266
    Cell Significance Index: -0.6800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0338
    Cell Significance Index: -3.5200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0351
    Cell Significance Index: -2.6900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0370
    Cell Significance Index: -0.5300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0372
    Cell Significance Index: -0.5600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0374
    Cell Significance Index: -2.2900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0417
    Cell Significance Index: -1.9600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0419
    Cell Significance Index: -3.1200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0421
    Cell Significance Index: -1.2400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0437
    Cell Significance Index: -3.4600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0479
    Cell Significance Index: -1.2800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0518
    Cell Significance Index: -1.6500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0525
    Cell Significance Index: -1.2600
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.0529
    Cell Significance Index: -0.5800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0620
    Cell Significance Index: -2.0300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0646
    Cell Significance Index: -2.0700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0665
    Cell Significance Index: -2.3300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0701
    Cell Significance Index: -2.0000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0702
    Cell Significance Index: -1.4900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0705
    Cell Significance Index: -1.1800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0708
    Cell Significance Index: -1.5300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0723
    Cell Significance Index: -1.4300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0739
    Cell Significance Index: -2.1700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0768
    Cell Significance Index: -2.8200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0772
    Cell Significance Index: -1.5500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0778
    Cell Significance Index: -1.9400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0809
    Cell Significance Index: -1.3600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0898
    Cell Significance Index: -1.6600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0904
    Cell Significance Index: -4.5700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0916
    Cell Significance Index: -1.3300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0931
    Cell Significance Index: -1.1600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MPZ is a transmembrane protein, belonging to the immunoglobulin superfamily, which is composed of four immunoglobulin-like domains. It is primarily expressed in the nervous system, particularly in Schwann cells, which are responsible for myelinating axons. The protein is highly conserved across species, suggesting its essential role in maintaining the myelin sheath. MPZ has been shown to interact with other proteins, such as myelin basic protein (MBP) and proteolipid protein (PLP), to form a complex that is essential for myelin stability and function. **Pathways and Functions:** MPZ plays a crucial role in the development and maintenance of the myelin sheath through several mechanisms: 1. **Cell-cell adhesion**: MPZ interacts with other proteins to form a complex that mediates adhesion between Schwann cells and axons, ensuring proper myelination. 2. **Myelination**: MPZ is involved in the process of myelination, where Schwann cells wrap their membranes around axons to form the myelin sheath. 3. **Chemical synaptic transmission**: MPZ has been shown to interact with neurotransmitters, such as GABA, to regulate synaptic transmission. 4. **Developmental biology**: MPZ is essential for the development of the nervous system, particularly during embryonic development. **Clinical Significance:** Dysregulation of MPZ has been implicated in several autoimmune disorders, including multiple sclerosis (MS). MS is a chronic, inflammatory disease characterized by demyelination, axonal damage, and progressive neurological deficits. The loss of myelin sheath integrity leads to impaired neuronal function and transmission. Research has shown that MPZ is a target of autoantibodies in patients with MS, highlighting its role in the disease's pathogenesis. In addition to MS, dysregulation of MPZ has been implicated in other autoimmune disorders, such as Guillain-Barré syndrome, a rare autoimmune disorder characterized by muscle weakness and paralysis. Studies have also shown that MPZ is involved in the regulation of immune responses, particularly in the context of autoimmune diseases. **Conclusion:** In conclusion, myelin protein zero (MPZ) is a critical component of the myelin sheath, essential for maintaining the integrity and function of the nervous system. Its dysregulation has been implicated in several autoimmune disorders, including multiple sclerosis and Guillain-Barré syndrome. Further research is needed to fully elucidate the complex interactions between MPZ and the immune system, with the ultimate goal of developing novel therapeutic strategies for autoimmune diseases. **Recommendations:** 1. Further studies are needed to elucidate the mechanisms by which MPZ interacts with other proteins and regulates immune responses. 2. The development of novel therapeutic strategies targeting MPZ and its interactions with other proteins is warranted. 3. Research should focus on understanding the role of MPZ in the development and progression of autoimmune disorders, with the goal of developing more effective treatments. **Future Directions:** The study of MPZ and its role in the immune system is a rapidly evolving field, with significant implications for our understanding of autoimmune disorders. Future research should focus on: 1. Elucidating the mechanisms by which MPZ interacts with other proteins and regulates immune responses. 2. Developing novel therapeutic strategies targeting MPZ and its interactions with other proteins. 3. Investigating the role of MPZ in the development and progression of autoimmune disorders, with the goal of developing more effective treatments.

Genular Protein ID: 142633649

Symbol: MYP0_HUMAN

Name: Myelin protein P0

UniProtKB Accession Codes:

P25189 Q16072 Q5VTH4 Q92677 Q9BR67

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 17 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 8 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 2 SASBDB 1 SIGNOR 1 SMART 2 SMR 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniLectin 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1719967

Title: Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin.

PubMed ID: 1719967

DOI: 10.1016/s0006-291x(05)81094-0

PubMed ID: 7688964

Title: Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1.

PubMed ID: 7688964

DOI: 10.1006/bbrc.1993.1968

PubMed ID: 7509228

Title: The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23.

PubMed ID: 7509228

DOI: 10.1093/hmg/2.12.2051

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7693130

Title: Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.

PubMed ID: 7693130

DOI: 10.1038/ng0993-35

PubMed ID: 7530774

Title: Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

PubMed ID: 7530774

DOI: 10.1136/jmg.31.10.811

PubMed ID: 22457349

Title: L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough.

PubMed ID: 22457349

DOI: 10.1074/jbc.m111.314468

PubMed ID: 7762451

Title: Molecular genetics of Charcot-Marie-Tooth neuropathy.

PubMed ID: 7762451

DOI: 10.1007/978-1-4757-9062-7_3

PubMed ID: 7518101

Title: Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.

PubMed ID: 7518101

DOI: 10.1016/0168-9525(94)90214-3

PubMed ID: 21971831

Title: Crystal structure of the extracellular domain of human myelin protein zero.

PubMed ID: 21971831

DOI: 10.1002/prot.23164

PubMed ID: 7694726

Title: Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

PubMed ID: 7694726

DOI: 10.1093/hmg/2.9.1369

PubMed ID: 7505151

Title: New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.

PubMed ID: 7505151

PubMed ID: 7693129

Title: Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.

PubMed ID: 7693129

DOI: 10.1038/ng0993-31

PubMed ID: 7504284

Title: Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients.

PubMed ID: 7504284

DOI: 10.1073/pnas.90.22.10856

PubMed ID: 7506095

Title: De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

PubMed ID: 7506095

DOI: 10.1038/ng1193-266

PubMed ID: 7527371

Title: Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.

PubMed ID: 7527371

DOI: 10.1007/bf00206959

PubMed ID: 8835320

Title: Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.

PubMed ID: 8835320

DOI: 10.1111/j.1399-0004.1995.tb04109.x

PubMed ID: 7550231

Title: Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.

PubMed ID: 7550231

DOI: 10.1002/humu.1380060110

PubMed ID: 8630052

Title: A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

PubMed ID: 8630052

DOI: 10.1006/bbrc.1996.0705

PubMed ID: 8664899

Title: Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.

PubMed ID: 8664899

DOI: 10.1002/(sici)1098-1004(1996)7:1<36::aid-humu5>3.0.co;2-n

PubMed ID: 8844219

Title: Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.

PubMed ID: 8844219

DOI: 10.1002/(sici)1098-1004(1996)8:2<185::aid-humu13>3.0.co;2-z

PubMed ID: 8797476

Title: Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.

PubMed ID: 8797476

DOI: 10.1212/wnl.47.3.761

PubMed ID: 8816708

Title: Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

PubMed ID: 8816708

DOI: 10.1016/s0896-6273(00)80177-4

PubMed ID: 9217235

Title: Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.

PubMed ID: 9217235

DOI: 10.1002/(sici)1096-8628(19970808)71:2<246::aid-ajmg28>3.0.co;2-d

PubMed ID: 9187667

Title: Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

PubMed ID: 9187667

DOI: 10.1007/s004390050442

PubMed ID: 8990016

Title: Novel mutation of the myelin P0 gene in a CMT1B family.

PubMed ID: 8990016

DOI: 10.1002/(sici)1098-1004(1997)9:1<74::aid-humu16>3.0.co;2-m

PubMed ID: 9222756

Title: Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.

PubMed ID: 9222756

DOI: 10.1002/(sici)1098-1004(1997)10:1<21::aid-humu3>3.0.co;2-p

PubMed ID: 9452055

Title: De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.

PubMed ID: 9452055

DOI: 10.1002/humu.1380110134

PubMed ID: 9452091

Title: Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.

PubMed ID: 9452091

DOI: 10.1002/humu.1380110170

PubMed ID: 9452099

Title: Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).

PubMed ID: 9452099

DOI: 10.1002/humu.1380110178

PubMed ID: 9633821

Title: Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

PubMed ID: 9633821

DOI: 10.1002/(sici)1098-1004(1998)12:1<59::aid-humu9>3.0.co;2-a

PubMed ID: 9595994

Title: Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.

PubMed ID: 9595994

DOI: 10.1212/wnl.50.5.1397

PubMed ID: 10319895

Title: Congenital hypomyelination due to myelin protein zero Q215X mutation.

PubMed ID: 10319895

DOI: 10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k

PubMed ID: 10553995

Title: The Roussy-Levy family: from the original description to the gene.

PubMed ID: 10553995

DOI: 10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u

PubMed ID: 10071056

Title: The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

PubMed ID: 10071056

DOI: 10.1093/brain/122.2.281

PubMed ID: 9888385

Title: Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

PubMed ID: 9888385

DOI: 10.1002/(sici)1098-1004(1999)13:1<11::aid-humu2>3.0.co;2-a

PubMed ID: 10329755

Title: Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.

PubMed ID: 10329755

DOI: 10.1136/jnnp.66.6.779

PubMed ID: 10406984

Title: Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

PubMed ID: 10406984

DOI: 10.1136/jnnp.67.2.174

PubMed ID: 10214757

Title: A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.

PubMed ID: 10214757

DOI: 10.1212/wnl.52.6.1271

PubMed ID: 10545037

Title: Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.

PubMed ID: 10545037

DOI: 10.1016/s0960-8966(99)00031-0

PubMed ID: 10965800

Title: Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.

PubMed ID: 10965800

DOI: 10.1007/s004019900175

PubMed ID: 10764043

Title: Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met.

PubMed ID: 10764043

DOI: 10.1111/j.1750-3639.2000.tb00257.x

PubMed ID: 10737979

Title: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

PubMed ID: 10737979

DOI: 10.1002/(sici)1098-1004(200004)15:4<340::aid-humu6>3.0.co;2-y

PubMed ID: 10923043

Title: Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

PubMed ID: 10923043

DOI: 10.1002/1098-1004(200008)16:2<177::aid-humu14>3.0.co;2-5

PubMed ID: 11080237

Title: An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PubMed ID: 11080237

DOI: 10.1136/jnnp.69.6.806

PubMed ID: 11438991

Title: Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.

PubMed ID: 11438991

DOI: 10.1002/humu.1147

PubMed ID: 11437164

Title: Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.

PubMed ID: 11437164

DOI: 10.1007/s004150170183

PubMed ID: 11596785

Title: The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.

PubMed ID: 11596785

DOI: 10.1007/s004150170096

PubMed ID: 11445635

Title: A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.

PubMed ID: 11445635

DOI: 10.1212/wnl.57.1.101

PubMed ID: 11835375

Title: Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PubMed ID: 11835375

DOI: 10.1002/ana.10089

PubMed ID: 12402337

Title: Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

PubMed ID: 12402337

DOI: 10.1002/humu.10134

PubMed ID: 12221176

Title: Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero gene mutation.

PubMed ID: 12221176

DOI: 10.1212/wnl.59.5.767

PubMed ID: 11801400

Title: Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.

PubMed ID: 11801400

DOI: 10.1016/s0960-8966(01)00281-4

PubMed ID: 12207932

Title: Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

PubMed ID: 12207932

DOI: 10.1016/s0960-8966(02)00021-4

PubMed ID: 12477701

Title: Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

PubMed ID: 12477701

DOI: 10.1093/brain/awg012

PubMed ID: 12497641

Title: Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

PubMed ID: 12497641

DOI: 10.1002/humu.9101

PubMed ID: 12707985

Title: Clinical and genetic analysis of CMT1B in a Nigerian family.

PubMed ID: 12707985

DOI: 10.1002/mus.10344

PubMed ID: 12845552

Title: Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.

PubMed ID: 12845552

DOI: 10.1007/s10048-003-0153-0

PubMed ID: 14638973

Title: Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

PubMed ID: 14638973

DOI: 10.1212/01.wnl.0000094197.46109.75

PubMed ID: 14711881

Title: Phenotypic clustering in MPZ mutations.

PubMed ID: 14711881

DOI: 10.1093/brain/awh048

PubMed ID: 14871447

Title: An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene.

PubMed ID: 14871447

DOI: 10.1111/j.1085-9489.2004.09101.x

PubMed ID: 15241803

Title: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

PubMed ID: 15241803

DOI: 10.1002/humu.9261

PubMed ID: 15184631

Title: A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

PubMed ID: 15184631

DOI: 10.1212/01.wnl.0000127606.93772.3a

PubMed ID: 15326256

Title: Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

PubMed ID: 15326256

DOI: 10.1212/01.wnl.0000134605.61307.de

PubMed ID: 16488608

Title: Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

PubMed ID: 16488608

DOI: 10.1016/j.nmd.2006.01.006

PubMed ID: 18337304

Title: Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.

PubMed ID: 18337304

DOI: 10.1093/hmg/ddn083

PubMed ID: 15159512

Title: Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).

PubMed ID: 15159512

DOI: 10.1212/01.wnl.0000125287.98456.23

PubMed ID: 15036333

Title: A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

PubMed ID: 15036333

DOI: 10.1016/j.nmd.2003.12.001

PubMed ID: 16775239

Title: Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs.

PubMed ID: 16775239

DOI: 10.1056/nejmcpc069009

Sequence Information:

  • Length: 248
  • Mass: 27555
  • Checksum: A93F4744DACB0D5E
  • Sequence:
    • MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD 
DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS 
DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR 
YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL 
GESRKDKK

Genular Protein ID: 3562082250

Symbol: A0A5F9ZI26_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A5F9ZI26

Database IDs:

ARBA 11 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 1 Gene3D 1 GeneTree 1 HGNC 1 InterPro 9 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 3 SMART 2 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 312
  • Mass: 34498
  • Checksum: 5560B95BA7F428C5
  • Sequence:
    • MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD 
DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS 
DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR 
YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL 
GESRKDKKXR LAGRAGDRGL GVESAKGPKV MVIEMELRKD EQSPELRPAV KSPSRTSLKN 
ALKNMMGLNS DK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.