GAN wt Allele - CISMeF

Preferred Label : GAN wt Allele;

NCIt synonyms : GAN1; Gigaxonin wt Allele; Giant Axonal Neuropathy (Gigaxonin) Gene; KLHL16;

NCIt definition : Human GAN wild-type allele is located in the vicinity of 16q24.1 and is approximately 65 kb in length. This allele, which encodes gigaxonin protein, is involved in both ubiquitination and neurofilament structure. Mutation of the gene is associated with giant axonal neuropathy.;

GenBank Accession Number : AF291673;

Details

Origin ID

C106423;

UMLS CUI

C3814805;

Automatic exact mappings (from CISMeF team)
- Giant axonal neuropathy 1, autosomal recessive [OMIM Phenotype]
- Gigaxonin [OMIM gene]
- gigaxonin [ORDO Gene]
OMIM relation
- Gigaxonin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q24.1 [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Process [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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