Details for: PLP1

Gene ID: 5354

Symbol: PLP1

Ensembl ID: ENSG00000123560

Description: proteolipid protein 1

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: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 66.8894
    Cell Significance Index: -31.5800
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 2.1704
    Cell Significance Index: 30.3500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4988
    Cell Significance Index: 33.5400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2708
    Cell Significance Index: 54.3200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2073
    Cell Significance Index: 74.3400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.1996
    Cell Significance Index: 2.8000
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.0644
    Cell Significance Index: 0.6900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0408
    Cell Significance Index: 2.5100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0246
    Cell Significance Index: 1.3800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0105
    Cell Significance Index: 0.3000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0035
    Cell Significance Index: -2.6000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0074
    Cell Significance Index: -1.5600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0084
    Cell Significance Index: -4.7600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0097
    Cell Significance Index: -6.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0127
    Cell Significance Index: -23.9300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0131
    Cell Significance Index: -9.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0236
    Cell Significance Index: -43.5300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0279
    Cell Significance Index: -42.8800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0321
    Cell Significance Index: -43.6000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0475
    Cell Significance Index: -30.1700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0614
    Cell Significance Index: -33.5200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0625
    Cell Significance Index: -1.5200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0679
    Cell Significance Index: -30.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0715
    Cell Significance Index: -32.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0798
    Cell Significance Index: -13.6300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.0879
    Cell Significance Index: -1.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0904
    Cell Significance Index: -26.0000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1119
    Cell Significance Index: -22.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1640
    Cell Significance Index: -29.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1969
    Cell Significance Index: -28.6200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2230
    Cell Significance Index: -30.6200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2434
    Cell Significance Index: -29.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2494
    Cell Significance Index: -29.0600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2524
    Cell Significance Index: -15.9100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2679
    Cell Significance Index: -30.5800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3041
    Cell Significance Index: -31.6600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3065
    Cell Significance Index: -31.3100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.3144
    Cell Significance Index: -40.3000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3152
    Cell Significance Index: -36.1100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3258
    Cell Significance Index: -42.0900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3733
    Cell Significance Index: -7.9800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4176
    Cell Significance Index: -32.0500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4619
    Cell Significance Index: -32.6700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5674
    Cell Significance Index: -29.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5674
    Cell Significance Index: -42.2900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.5837
    Cell Significance Index: -6.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5869
    Cell Significance Index: -25.9600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6047
    Cell Significance Index: -15.9000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.6183
    Cell Significance Index: -29.0600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.6268
    Cell Significance Index: -32.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6653
    Cell Significance Index: -34.9300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.7408
    Cell Significance Index: -25.9500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7602
    Cell Significance Index: -24.8900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.7622
    Cell Significance Index: -31.2300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7751
    Cell Significance Index: -29.3500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7762
    Cell Significance Index: -24.7200
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.8707
    Cell Significance Index: -9.5400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.8872
    Cell Significance Index: -18.8300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.9068
    Cell Significance Index: -31.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.9135
    Cell Significance Index: -42.5900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.9215
    Cell Significance Index: -22.1000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.9553
    Cell Significance Index: -20.6400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.9582
    Cell Significance Index: -16.4200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.9708
    Cell Significance Index: -19.4900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.9830
    Cell Significance Index: -24.5200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.9833
    Cell Significance Index: -21.5300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -1.0095
    Cell Significance Index: -21.0700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -1.0238
    Cell Significance Index: -15.8400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -1.0570
    Cell Significance Index: -20.9000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.0681
    Cell Significance Index: -39.2100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.0749
    Cell Significance Index: -31.6600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.0794
    Cell Significance Index: -34.1400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -1.0827
    Cell Significance Index: -18.7200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.1023
    Cell Significance Index: -22.4300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -1.1023
    Cell Significance Index: -14.7100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.1423
    Cell Significance Index: -30.5600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -1.1869
    Cell Significance Index: -30.2400
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -1.1902
    Cell Significance Index: -13.7800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -1.2189
    Cell Significance Index: -20.4000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.2252
    Cell Significance Index: -35.1200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.2327
    Cell Significance Index: -33.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.2434
    Cell Significance Index: -33.2000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.2471
    Cell Significance Index: -31.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.2477
    Cell Significance Index: -35.9500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -1.2608
    Cell Significance Index: -32.2100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -1.3108
    Cell Significance Index: -66.2400
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -1.3129
    Cell Significance Index: -25.8400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -1.3265
    Cell Significance Index: -21.0500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.3309
    Cell Significance Index: -33.2400
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -1.3901
    Cell Significance Index: -15.9100
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -1.4262
    Cell Significance Index: -18.0200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.4390
    Cell Significance Index: -35.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -1.4622
    Cell Significance Index: -39.8000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.4787
    Cell Significance Index: -36.0800
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -1.4899
    Cell Significance Index: -19.8600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -1.4926
    Cell Significance Index: -29.7700
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: -1.5175
    Cell Significance Index: -10.9200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.5569
    Cell Significance Index: -21.2400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -1.5638
    Cell Significance Index: -9.2800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -1.5807
    Cell Significance Index: -27.0200

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:** PLP1 is a type II transmembrane glycoprotein that plays a pivotal role in the development and maintenance of the CNS. It is primarily expressed in oligodendrocytes, the cells responsible for myelination, and is also found in astrocytes, microglia, and neurons. The PLP1 protein is composed of two main domains: the extracellular domain and the intracellular domain. The extracellular domain is involved in cell-cell interactions, while the intracellular domain regulates gene expression and protein synthesis. **Pathways and Functions:** PLP1 is involved in various signaling pathways that regulate CNS development, maintenance, and function. These pathways include: 1. **Ampa selective glutamate receptor signaling pathway:** PLP1 interacts with AMPA receptors, modulating excitatory neurotransmission and synaptic plasticity. 2. **Axon development and ensheathment:** PLP1 promotes axon growth, guidance, and ensheathment by interacting with axonal proteins and growth factors. 3. **Myelination:** PLP1 is a critical component of the myelin sheath, regulating the formation and maintenance of the myelin structure. 4. **Inflammatory response:** PLP1 modulates the inflammatory response by interacting with immune cells and cytokines. 5. **Gene expression regulation:** PLP1 regulates gene expression by interacting with transcription factors and chromatin remodeling complexes. **Clinical Significance:** Dysregulation of PLP1 has been implicated in various neurological disorders, including: 1. **Multiple sclerosis:** PLP1 is a major antigen in multiple sclerosis, and its dysregulation contributes to the disease's pathogenesis. 2. **Spinal muscular atrophy:** PLP1 is involved in the regulation of motor neuron survival and function. 3. **Charcot-Marie-Tooth disease:** PLP1 mutations have been identified in patients with Charcot-Marie-Tooth disease, a group of inherited disorders affecting the peripheral nervous system. In conclusion, the PLP1 gene plays a vital role in CNS development, maintenance, and function. Its dysregulation has significant implications for various neurological disorders, highlighting the need for further research into the mechanisms underlying PLP1's functions and the development of therapeutic strategies to target its dysregulation.

Genular Protein ID: 3834578978

Symbol: MYPR_HUMAN

Name: Myelin proteolipid protein

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3467339

Title: Individual exons encode the integral membrane domains of human myelin proteolipid protein.

PubMed ID: 3467339

DOI: 10.1073/pnas.83.24.9807

PubMed ID: 2441695

Title: Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence.

PubMed ID: 2441695

DOI: 10.1016/0006-291x(87)90580-8

PubMed ID: 2479017

Title: Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PubMed ID: 2479017

DOI: 10.1073/pnas.86.20.8128

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 4041237

Title: Amino-acid sequence of human and bovine brain myelin proteolipid protein (lipophilin) is completely conserved.

PubMed ID: 4041237

DOI: 10.1515/bchm3.1985.366.2.627

PubMed ID: 2449536

Title: Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA.

PubMed ID: 2449536

DOI: 10.1002/jnr.490180303

PubMed ID: 1711121

Title: Major myelin proteolipid: the 4-alpha-helix topology.

PubMed ID: 1711121

DOI: 10.1007/bf01868534

PubMed ID: 2773936

Title: Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.

PubMed ID: 2773936

PubMed ID: 2480601

Title: Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.

PubMed ID: 2480601

DOI: 10.1073/pnas.86.23.9427

PubMed ID: 1708672

Title: A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis.

PubMed ID: 1708672

DOI: 10.1515/bchm3.1990.371.2.1175

PubMed ID: 1707231

Title: A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.

PubMed ID: 1707231

DOI: 10.1002/ajmg.1320380129

PubMed ID: 1715570

Title: Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.

PubMed ID: 1715570

DOI: 10.1073/pnas.88.17.7562

PubMed ID: 1376966

Title: Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.

PubMed ID: 1376966

PubMed ID: 1384324

Title: Pelizaeus-Merzbacher disease: detection of mutations Thr181-->Pro and Leu223-->Pro in the proteolipid protein gene, and prenatal diagnosis.

PubMed ID: 1384324

PubMed ID: 7684886

Title: Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.

PubMed ID: 7684886

PubMed ID: 7679906

Title: A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease.

PubMed ID: 7679906

DOI: 10.1515/bchm3.1993.374.1-6.75

PubMed ID: 7683951

Title: A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.

PubMed ID: 7683951

DOI: 10.1093/hmg/2.1.19

PubMed ID: 8037216

Title: Comparison of statistics for candidate-gene association studies using cases and parents.

PubMed ID: 8037216

PubMed ID: 8012387

Title: X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

PubMed ID: 8012387

DOI: 10.1038/ng0394-257

PubMed ID: 7522741

Title: The rumpshaker mutation in spastic paraplegia.

PubMed ID: 7522741

DOI: 10.1038/ng0794-351

PubMed ID: 7539213

Title: In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

PubMed ID: 7539213

DOI: 10.1002/ajmg.1320550404

PubMed ID: 7573159

Title: Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.

PubMed ID: 7573159

DOI: 10.1002/ajmg.1320580114

PubMed ID: 7541731

Title: Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

PubMed ID: 7541731

DOI: 10.1111/j.1399-0004.1995.tb03932.x

PubMed ID: 7531827

Title: A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

PubMed ID: 7531827

DOI: 10.1212/wnl.45.2.394

PubMed ID: 8956049

Title: A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.

PubMed ID: 8956049

DOI: 10.1002/(sici)1098-1004(1996)8:4<384::aid-humu17>3.0.co;2-z

PubMed ID: 8780101

Title: Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PubMed ID: 8780101

DOI: 10.1212/wnl.46.4.1112

PubMed ID: 8909455

Title: Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

PubMed ID: 8909455

DOI: 10.1212/wnl.47.5.1333

PubMed ID: 9143933

Title: A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.

PubMed ID: 9143933

DOI: 10.1002/(sici)1098-1004(1997)9:5<475::aid-humu19>3.0.co;2-#

PubMed ID: 9008538

Title: Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.

PubMed ID: 9008538

DOI: 10.1212/wnl.48.1.283

PubMed ID: 9482656

Title: Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.

PubMed ID: 9482656

DOI: 10.1002/(sici)1096-8628(19980203)75:4<439::aid-ajmg19>3.3.co;2-5

PubMed ID: 9489796

Title: X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).

PubMed ID: 9489796

DOI: 10.1002/(sici)1096-8628(19980217)75:5<516::aid-ajmg11>3.0.co;2-n

PubMed ID: 9788732

Title: A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.

PubMed ID: 9788732

DOI: 10.1111/j.1399-0004.1998.tb04295.x

PubMed ID: 9747038

Title: Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein 'PLP' gene.

PubMed ID: 9747038

DOI: 10.1007/s100380050072

PubMed ID: 9633722

Title: Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

PubMed ID: 9633722

DOI: 10.1212/wnl.50.6.1749

PubMed ID: 10417279

Title: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not.

PubMed ID: 10417279

DOI: 10.1086/302483

PubMed ID: 9934976

Title: Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).

PubMed ID: 9934976

DOI: 10.1002/(sici)1096-8628(19990115)82:2<132::aid-ajmg6>3.0.co;2-4

PubMed ID: 9894878

Title: Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.

PubMed ID: 9894878

DOI: 10.1002/1531-8249(199901)45:1<59::aid-art11>3.0.co;2-3

PubMed ID: 10319897

Title: Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.

PubMed ID: 10319897

DOI: 10.1002/1531-8249(199905)45:5<680::aid-ana23>3.3.co;2-8

PubMed ID: 10425042

Title: A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.

PubMed ID: 10425042

DOI: 10.1002/(sici)1098-1004(1999)14:2<182::aid-humu12>3.0.co;2-y

PubMed ID: 11093273

Title: Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.

PubMed ID: 11093273

DOI: 10.1038/sj.ejhg.5200537

PubMed ID: 11786921

Title: A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.

PubMed ID: 11786921

PubMed ID: 15450775

Title: A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.

PubMed ID: 15450775

DOI: 10.1016/j.jns.2004.05.015

PubMed ID: 15712223

Title: Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

PubMed ID: 15712223

DOI: 10.1002/humu.9314

PubMed ID: 17438221

Title: Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.

PubMed ID: 17438221

DOI: 10.1212/01.wnl.0000259522.49388.53

PubMed ID: 24103481

Title: A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.

PubMed ID: 24103481

DOI: 10.1016/j.gene.2013.09.076

Sequence Information:

  • Length: 277
  • Mass: 30077
  • Checksum: 3C2BC973C3061C38
  • Sequence:
  • MGLLECCARC LVGAPFASLV ATGLCFFGVA LFCGCGHEAL TGTEKLIETY FSKNYQDYEY 
    LINVIHAFQY VIYGTASFFF LYGALLLAEG FYTTGAVRQI FGDYKTTICG KGLSATVTGG 
    QKGRGSRGQH QAHSLERVCH CLGKWLGHPD KFVGITYALT VVWLLVFACS AVPVYIYFNT 
    WTTCQSIAFP SKTSASIGSL CADARMYGVL PWNAFPGKVC GSNLLSICKT AEFQMTFHLF 
    IAAFVGAAAT LVSLLTFMIA ATYNFAVLKL MGRGTKF

Genular Protein ID: 3199474267

Symbol: A0A0S2Z4D4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 242
  • Mass: 26274
  • Checksum: 90DEFE60148DC659
  • Sequence:
  • MGLLECCARC LVGAPFASLV ATGLCFFGVA LFCGCGHEAL TGTEKLIETY FSKNYQDYEY 
    LINVIHAFQY VIYGTASFFF LYGALLLAEG FYTTGAVRQI FGDYKTTICG KGLSATFVGI 
    TYALTVVWLL VFACSAVPVY IYFNTWTTCQ SIAFPSKTSA SIGSLCADAR MYGVLPWNAF 
    PGKVCGSNLL SICKTAEFQM TFHLFIAAFV GAAATLVSLL TFMIAATYNF AVLKLMGRGT 
    KF

Genular Protein ID: 3252841044

Symbol: B4DI30_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 222
  • Mass: 24270
  • Checksum: 7E05620C11BC8D90
  • Sequence:
  • MDYEYLINVI HAFQYVIYGT ASFFFLYGAL LLAEGFYTTG AVRQIFGDYK TTICGKGLSA 
    TVTGGQKGRG SRGQHQAHSL ERVCHCLGKW LGHPDKFVGI TYALTVVWLL VFACSAVPVY 
    IYFNTWTTCQ SIAFPSKTSA SIGSLCADAR MYGVLPWNAF PGKVCGSNLL SICKTAEFQM 
    TFHLFIAAFV GAAATLVSLL TFMIAATYNF AVLKLMGRGT KF

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.