Details for: GFAP

Gene ID: 2670

Symbol: GFAP

Ensembl ID: ENSG00000131095

Description: glial fibrillary acidic protein

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 5.63
    Marker Score: 3707
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.73
    Marker Score: 58320
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.31
    Marker Score: 2325
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.1
    Marker Score: 1822
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1175
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.54
    Marker Score: 5966
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.36
    Marker Score: 556
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 1.36
    Marker Score: 529
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 860
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 491
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4817
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.13
    Marker Score: 1403
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.13
    Marker Score: 7489
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1
    Marker Score: 506
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1
    Marker Score: 2075.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71827
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48051
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 512
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 466
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.95
    Marker Score: 870
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 377
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5351
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 329
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.9
    Marker Score: 323.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.85
    Marker Score: 13365
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 400
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.73
    Marker Score: 386
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 466
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.67
    Marker Score: 1131
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.67
    Marker Score: 390
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.65
    Marker Score: 240
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.62
    Marker Score: 497
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.6
    Marker Score: 373
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.56
    Marker Score: 176
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.52
    Marker Score: 232
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.48
    Marker Score: 1143
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.47
    Marker Score: 957
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.46
    Marker Score: 1312
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.46
    Marker Score: 865
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.4
    Marker Score: 726
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.4
    Marker Score: 4086
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.37
    Marker Score: 514
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.37
    Marker Score: 168
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.35
    Marker Score: 1406
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.33
    Marker Score: 165
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.33
    Marker Score: 328
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.32
    Marker Score: 193
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.29
    Marker Score: 336
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.27
    Marker Score: 178
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.26
    Marker Score: 249
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.26
    Marker Score: 114
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.25
    Marker Score: 87
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.25
    Marker Score: 589.5
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.25
    Marker Score: 114
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.25
    Marker Score: 236
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.24
    Marker Score: 72
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.24
    Marker Score: 124
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.22
    Marker Score: 93
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.22
    Marker Score: 107
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.22
    Marker Score: 69
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.22
    Marker Score: 91
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.21
    Marker Score: 370
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.21
    Marker Score: 146
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.21
    Marker Score: 162
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.21
    Marker Score: 76
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.21
    Marker Score: 249
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.2
    Marker Score: 1964
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.19
    Marker Score: 215
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.19
    Marker Score: 94
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.19
    Marker Score: 66
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.18
    Marker Score: 165
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.18
    Marker Score: 107
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.18
    Marker Score: 53
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.18
    Marker Score: 2643
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.17
    Marker Score: 265
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.17
    Marker Score: 1305
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.17
    Marker Score: 212
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.17
    Marker Score: 345
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.17
    Marker Score: 54
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.17
    Marker Score: 697
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.17
    Marker Score: 265
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.16
    Marker Score: 181
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.16
    Marker Score: 627
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.15
    Marker Score: 5843
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.15
    Marker Score: 89
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.15
    Marker Score: 1294
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.15
    Marker Score: 9115
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.15
    Marker Score: 82
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.14
    Marker Score: 5322
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.14
    Marker Score: 1331
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.13
    Marker Score: 537

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Other Information

**Key characteristics:** - High expression in mature astrocytes, astrocyte precursors, and some neuronal and endothelial cells. - Forms a complex protein network that interacts with various cellular components. - Plays a role in the regulation of neurogenesis, synapse formation, and neuronal survival. **Pathways and functions:** - **Astrocyte development:** GFAP is essential for the survival and differentiation of astrocytes, the star-shaped cells that make up the bulk of the CNS white matter. - **Autophagy:** GFAP is involved in the regulation of autophagy, a cellular process that breaks down and recycles damaged or unnecessary proteins. - **Chaperone mediated autophagy:** GFAP is a chaperone protein that helps to protect other proteins from degradation by the autophagy machinery. - **Extracellular matrix organization:** GFAP is a key component of the extracellular matrix (ECM), where it helps to maintain tissue integrity and facilitate cell migration and adhesion. - **Gene expression:** GFAP is expressed in high levels in the developing CNS and is involved in the regulation of gene expression. - **Identical protein binding:** GFAP has a similar structure to tenascin-C, a protein that is expressed in the extracellular matrix. This structural similarity suggests that GFAP may play a role in the assembly and organization of the extracellular matrix. - **Integrin binding:** GFAP binds to integrins, a family of cell adhesion molecules that are important for cell migration and adhesion. This interaction between GFAP and integrins is crucial for the migration of astrocytes and other cells in the CNS. - **Intracellular protein transport:** GFAP is a key protein for the intracellular transport of other proteins, including growth factors and neurotransmitters. - **Kinase binding:** GFAP binds to various kinases, which are enzymes that regulate cellular processes. This binding is involved in the regulation of neurogenesis, survival, and differentiation. - **Negative regulation of neuron projection development:** GFAP expression is downregulated in neurons during development, suggesting that it plays a role in inhibiting neuronal projection. - **Neuron projection regeneration:** GFAP is upregulated in neurons that are injured or demyelinated, suggesting that it plays a role in the regeneration of injured neurons. - **Nuclear signaling by erbb4:** GFAP is a key regulator of nuclear signaling by the epidermal growth factor receptor beta-4 (Erbb4). Erbb4 is an important signaling pathway for the development and survival of neurons. - **Positive regulation of schwann cell proliferation:** GFAP is a key regulator of schwann cell proliferation, which is essential for the maintenance of the CNS. **Clinical significance:** - Mutations in GFAP have been linked to several neurodegenerative diseases, including multiple sclerosis, Alzheimer's disease, and amyotrophic lateral sclerosis. - Targeting GFAP has been explored as a therapeutic strategy for these diseases, but it has not been successful so far.

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 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 27 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 PANTHER 2 PDB 2 PDBsum 1 PIR 2 PRIDE 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 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 UCD-2DPAGE 1 UCSC 1 UniProtKB 2 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. For the full schema, download it here.