About: GFAP wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • GFAP wt Allele
rdfs:subClassOf
OMIM_Number
  • 137780
GenBank_Accession_Number
  • NM_002055
Semantic_Type
  • Gene or Genome
Preferred_Name
  • GFAP wt Allele
UMLS_CUI
  • C2348720
EntrezGene_ID
  • 2670
Legacy_Concept_Name
  • GFAP_wt_Allele
HGNC_ID
  • HGNC:4235
FULL_SYN
  • GFAP wt AllelePTNCI
  • FLJ45472SYNCI
  • Glial Fibrillary Acidic Protein wt AlleleSYNCI
DEFINITION
  • Human GFAP wild-type allele is located in the vicinity of 17q21and is approximately 10 kb in length. This allele, which encodes glial fibrillary acidic protein, may play a role in the modulation of both motility and cellular morphology of astrocytes. Mutations in the gene are associated with Alexander disease, which is characterized by both progressive leukoencephalopathy and loss of neuronal myelination with age.NCI
DesignNote
  • The GFAP gene is expressed as three distinct isoforms that result from alternative splicing.
code
  • C68803
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