Details for: GFAP

Gene ID: 2670

Symbol: GFAP

Ensembl ID: ENSG00000131095

Description: glial fibrillary acidic protein

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: hippocampal astrocyte (CL0002604)
    Fold Change: 6.7608
    Cell Significance Index: 94.5400
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 3.6001
    Cell Significance Index: 40.0100
  • Cell Name: glioblast (CL0000030)
    Fold Change: 0.6736
    Cell Significance Index: 4.2300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.5174
    Cell Significance Index: 31.7200
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.2857
    Cell Significance Index: 4.9400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2146
    Cell Significance Index: 13.1900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0928
    Cell Significance Index: 83.7600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0618
    Cell Significance Index: 11.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0312
    Cell Significance Index: 11.1900
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.0149
    Cell Significance Index: 0.1700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0092
    Cell Significance Index: -0.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0092
    Cell Significance Index: -17.2700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0136
    Cell Significance Index: -25.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0160
    Cell Significance Index: -24.5600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0185
    Cell Significance Index: -25.1300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0230
    Cell Significance Index: -2.2800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0270
    Cell Significance Index: -19.8000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0282
    Cell Significance Index: -21.3200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0291
    Cell Significance Index: -18.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0320
    Cell Significance Index: -23.6700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0336
    Cell Significance Index: -6.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0360
    Cell Significance Index: -19.6500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0417
    Cell Significance Index: -23.5100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0457
    Cell Significance Index: -20.7300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0468
    Cell Significance Index: -7.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0507
    Cell Significance Index: -1.7800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0563
    Cell Significance Index: -16.2000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0632
    Cell Significance Index: -4.2500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0961
    Cell Significance Index: -19.0700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0975
    Cell Significance Index: -17.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1087
    Cell Significance Index: -11.1100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1127
    Cell Significance Index: -3.1500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1194
    Cell Significance Index: -25.1500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1289
    Cell Significance Index: -3.3100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1298
    Cell Significance Index: -14.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1326
    Cell Significance Index: -22.6500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1375
    Cell Significance Index: -19.9900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1441
    Cell Significance Index: -19.7900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1444
    Cell Significance Index: -17.7600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1456
    Cell Significance Index: -6.6000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1694
    Cell Significance Index: -4.2300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1696
    Cell Significance Index: -19.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1713
    Cell Significance Index: -19.6300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1773
    Cell Significance Index: -22.9100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1804
    Cell Significance Index: -4.3700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2291
    Cell Significance Index: -12.0300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2410
    Cell Significance Index: -16.6700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2505
    Cell Significance Index: -19.8400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2690
    Cell Significance Index: -7.7500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2838
    Cell Significance Index: -21.7800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3201
    Cell Significance Index: -23.8600
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.3260
    Cell Significance Index: -3.7800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3441
    Cell Significance Index: -17.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3544
    Cell Significance Index: -8.8600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.3723
    Cell Significance Index: -4.2300
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.3828
    Cell Significance Index: -3.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3868
    Cell Significance Index: -18.1800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3976
    Cell Significance Index: -22.3100
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4397
    Cell Significance Index: -5.1300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4405
    Cell Significance Index: -6.0100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4685
    Cell Significance Index: -13.3700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4911
    Cell Significance Index: -17.2100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4950
    Cell Significance Index: -3.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4951
    Cell Significance Index: -21.9000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.5162
    Cell Significance Index: -12.3800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5272
    Cell Significance Index: -24.5800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5330
    Cell Significance Index: -27.6900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5376
    Cell Significance Index: -17.6000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5501
    Cell Significance Index: -17.5200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5646
    Cell Significance Index: -21.3800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5666
    Cell Significance Index: -16.6900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.5684
    Cell Significance Index: -12.1500
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.5927
    Cell Significance Index: -4.5600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.6042
    Cell Significance Index: -13.0900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.6715
    Cell Significance Index: -16.7500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.6851
    Cell Significance Index: -11.7400
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.7053
    Cell Significance Index: -17.9700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.7092
    Cell Significance Index: -15.5300
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.7099
    Cell Significance Index: -14.4500
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.7125
    Cell Significance Index: -7.0500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.7202
    Cell Significance Index: -17.9600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.7343
    Cell Significance Index: -15.8700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7430
    Cell Significance Index: -15.7700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7500
    Cell Significance Index: -19.7200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.7576
    Cell Significance Index: -20.2300
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.7598
    Cell Significance Index: -8.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.7968
    Cell Significance Index: -21.3500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.7992
    Cell Significance Index: -16.6800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.8115
    Cell Significance Index: -19.8000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.8139
    Cell Significance Index: -41.1300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.8149
    Cell Significance Index: -16.3600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.8178
    Cell Significance Index: -16.1700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8201
    Cell Significance Index: -23.5100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.8226
    Cell Significance Index: -17.5200
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.8237
    Cell Significance Index: -14.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.8288
    Cell Significance Index: -22.5600
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.8681
    Cell Significance Index: -8.2600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.8808
    Cell Significance Index: -36.0900
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.8980
    Cell Significance Index: -17.6800
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.9250
    Cell Significance Index: -10.9000

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:** 1. **Expression Pattern:** GFAP is predominantly expressed in mature astrocytes, as well as in other cell types, including blood vessel endothelial cells, colon goblet cells, and intestinal crypt stem cells. 2. **Function:** GFAP acts as a scaffold protein, facilitating cell-cell and cell-matrix interactions, and modulating signaling pathways involved in cell growth, differentiation, and survival. 3. **Structural Role:** GFAP is a major component of intermediate filaments, which provide mechanical strength and stability to cells, particularly in the CNS. 4. **Regulatory Functions:** GFAP regulates various cellular processes, including autophagy, chaperone-mediated autophagy, and protein-containing complex assembly. **Pathways and Functions:** 1. **Astrocyte Development and Function:** GFAP plays a crucial role in the development and maturation of astrocytes, influencing their morphology, function, and interactions with neurons. 2. **Autophagy and Chaperone-Mediated Autophagy:** GFAP regulates autophagy and chaperone-mediated autophagy, modulating protein degradation and cellular homeostasis. 3. **Inflammation and Immune Response:** GFAP modulates the inflammatory response by regulating the function of immune cells, such as neutrophils and macrophages, and influencing the production of pro-inflammatory cytokines. 4. **Neuroprotection and Neuroregeneration:** GFAP has neuroprotective properties, protecting neurons from damage and promoting neuroregeneration. **Clinical Significance:** 1. **Neurological Disorders:** GFAP has been implicated in various neurological disorders, including multiple sclerosis, Alzheimer's disease, and Parkinson's disease, where its dysregulation contributes to disease progression. 2. **Inflammatory Diseases:** GFAP's role in regulating the immune response makes it a potential therapeutic target for inflammatory diseases, such as rheumatoid arthritis and inflammatory bowel disease. 3. **Cancer:** GFAP's involvement in autophagy and protein degradation makes it a potential target for cancer therapy, where its dysregulation contributes to cancer progression. 4. **Neurodegenerative Diseases:** GFAP's neuroprotective properties make it a potential therapeutic agent for neurodegenerative diseases, such as stroke and spinal cord injury. In conclusion, GFAP is a multifunctional protein that plays a critical role in various cellular processes, including cell adhesion, signaling, and cytoskeletal organization. Its dysregulation has been implicated in various immune-related disorders, making it a promising therapeutic target for the treatment of neurological and inflammatory diseases.

Genular Protein ID: 4147877849

Symbol: GFAP_HUMAN

Name: Glial fibrillary acidic protein

UniProtKB Accession Codes:

P14136 A7REI1 B2RD44 D3DX59 E9PAX3 Q53H98 Q5D055 Q6ZQS3 Q7Z5J6 Q7Z5J7 Q96KS4 Q96P18 Q9UFD0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 19 Ensembl 3 ExpressionAtlas 1 GO 27 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PRIDE 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2740350

Title: Molecular cloning and primary structure of human glial fibrillary acidic protein.

PubMed ID: 2740350

DOI: 10.1073/pnas.86.13.5178

PubMed ID: 2163003

Title: Characterization of human cDNA and genomic clones for glial fibrillary acidic protein.

PubMed ID: 2163003

DOI: 10.1016/0169-328x(90)90078-r

PubMed ID: 1847665

Title: Human glial fibrillary acidic protein: complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes.

PubMed ID: 1847665

PubMed ID: 1636374

Title: Human glial fibrillary acidic protein (GFAP): molecular cloning of the complete cDNA sequence and chromosomal localization (chromosome 17) of the GFAP gene.

PubMed ID: 1636374

DOI: 10.1007/bf00299404

PubMed ID: 9693047

Title: Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17.

PubMed ID: 9693047

DOI: 10.1006/geno.1998.5360

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 2349237

Title: An RNA polymerase II promoter containing sequences upstream and downstream from the RNA startpoint that direct initiation of transcription from the same site.

PubMed ID: 2349237

DOI: 10.1073/pnas.87.11.4289

PubMed ID: 2780570

Title: Changes in brain gene expression shared by scrapie and Alzheimer disease.

PubMed ID: 2780570

DOI: 10.1073/pnas.86.18.7260

PubMed ID: 17203480

Title: Identification and characterization of GFAPkappa, a novel glial fibrillary acidic protein isoform.

PubMed ID: 17203480

DOI: 10.1002/glia.20475

PubMed ID: 12058025

Title: A new splice variant of glial fibrillary acidic protein GFAPepsilon, interacts with the presenilin proteins.

PubMed ID: 12058025

DOI: 10.1074/jbc.m112121200

PubMed ID: 12837269

Title: Genetic polymorphism and sequence evolution of an alternatively spliced exon of the glial fibrillary acidic protein gene, GFAP.

PubMed ID: 12837269

DOI: 10.1016/s0888-7543(03)00106-x

PubMed ID: 9175763

Title: Domain-specific phosphorylation of vimentin and glial fibrillary acidic protein by PKN.

PubMed ID: 9175763

DOI: 10.1006/bbrc.1997.6669

PubMed ID: 9099667

Title: Phosphorylation of glial fibrillary acidic protein at the same sites by cleavage furrow kinase and Rho-associated kinase.

PubMed ID: 9099667

DOI: 10.1074/jbc.272.16.10333

PubMed ID: 12686604

Title: Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase.

PubMed ID: 12686604

DOI: 10.1091/mbc.e02-09-0612

PubMed ID: 23828821

Title: Identification and Characterization of citrulline-modified brain proteins by combining HCD and CID fragmentation.

PubMed ID: 23828821

DOI: 10.1002/pmic.201300064

PubMed ID: 11138011

Title: Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

PubMed ID: 11138011

DOI: 10.1038/83679

PubMed ID: 11567214

Title: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

PubMed ID: 11567214

DOI: 10.1086/323799

PubMed ID: 11595337

Title: A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.

PubMed ID: 11595337

DOI: 10.1016/s0304-3940(01)02139-5

PubMed ID: 12034785

Title: Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

PubMed ID: 12034785

DOI: 10.1212/wnl.58.10.1494

PubMed ID: 12034796

Title: Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.

PubMed ID: 12034796

DOI: 10.1212/wnl.58.10.1541

PubMed ID: 12975300

Title: Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

PubMed ID: 12975300

DOI: 10.1001/archneur.60.9.1307

PubMed ID: 12581808

Title: Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.

PubMed ID: 12581808

DOI: 10.1016/s0387-7604(02)00167-5

PubMed ID: 12944715

Title: A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

PubMed ID: 12944715

DOI: 10.1159/000072507

PubMed ID: 15030911

Title: A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.

PubMed ID: 15030911

DOI: 10.1016/s0387-7604(03)00132-3

PubMed ID: 15732097

Title: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.

PubMed ID: 15732097

DOI: 10.1002/ana.20406

PubMed ID: 17043438

Title: A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.

PubMed ID: 17043438

DOI: 10.3346/jkms.2006.21.5.954

PubMed ID: 17805552

Title: Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.

PubMed ID: 17805552

DOI: 10.1007/s00401-007-0292-8

PubMed ID: 17894839

Title: GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

PubMed ID: 17894839

DOI: 10.1111/j.1399-0004.2007.00869.x

PubMed ID: 17934883

Title: An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.

PubMed ID: 17934883

DOI: 10.1007/s00415-007-0557-0

PubMed ID: 18079314

Title: Clinical and genetic study in Chinese patients with Alexander disease.

PubMed ID: 18079314

DOI: 10.1177/0883073807308691

PubMed ID: 18004641

Title: Adult-onset Alexander disease: report on a family.

PubMed ID: 18004641

DOI: 10.1007/s00415-007-0654-0

PubMed ID: 17960815

Title: Adult-onset Alexander disease with progressive ataxia and palatal tremor.

PubMed ID: 17960815

DOI: 10.1002/mds.21774

PubMed ID: 19412928

Title: Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.

PubMed ID: 19412928

DOI: 10.1002/mds.22556

PubMed ID: 20359319

Title: Adult-onset Alexander disease with typical 'tadpole' brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.

PubMed ID: 20359319

DOI: 10.1186/1471-2377-10-21

PubMed ID: 21917775

Title: GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

PubMed ID: 21917775

DOI: 10.1212/wnl.0b013e3182309f72

PubMed ID: 23364391

Title: Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

PubMed ID: 23364391

DOI: 10.1038/jhg.2012.152

PubMed ID: 23743246

Title: Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

PubMed ID: 23743246

DOI: 10.1016/j.jns.2013.05.019

PubMed ID: 24742911

Title: Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

PubMed ID: 24742911

DOI: 10.1016/j.ejpn.2014.03.009

Sequence Information:

  • Length: 432
  • Mass: 49880
  • Checksum: E6C3B3454C3F1250
  • Sequence:
    • MERRRITSAA RRSYVSSGEM MVGGLAPGRR LGPGTRLSLA RMPPPLPTRV DFSLAGALNA 
GFKETRASER AEMMELNDRF ASYIEKVRFL EQQNKALAAE LNQLRAKEPT KLADVYQAEL 
RELRLRLDQL TANSARLEVE RDNLAQDLAT VRQKLQDETN LRLEAENNLA AYRQEADEAT 
LARLDLERKI ESLEEEIRFL RKIHEEEVRE LQEQLARQQV HVELDVAKPD LTAALKEIRT 
QYEAMASSNM HEAEEWYRSK FADLTDAAAR NAELLRQAKH EANDYRRQLQ SLTCDLESLR 
GTNESLERQM REQEERHVRE AASYQEALAR LEEEGQSLKD EMARHLQEYQ DLLNVKLALD 
IEIATYRKLL EGEENRITIP VQTFSNLQIR ETSLDTKSVS EGHLKRNIVV KTVEMRDGEV 
IKESKQEHKD VM

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.