GFAP wt Allele

Preferred Label : GFAP wt Allele;

NCIt synonyms : Glial Fibrillary Acidic Protein wt Allele; FLJ45472;

NCIt 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.;

NCIt note : The GFAP gene is expressed as three distinct isoforms that result from alternative splicing.;

GenBank Accession Number : NM_002055;

Details

Origin ID

C68803;

UMLS CUI

C2348720;

Automatic exact mappings (from CISMeF team)
- glial fibrillary acidic protein [ORDO Gene]
OMIM relation
- Glial fibrillary acidic protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21 [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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