MYO15A wt Allele

Preferred Label : MYO15A wt Allele;

NCIt synonyms : Myosin XV Gene; Myosin XVA wt Allele; DFNB3; MYO15;

NCIt definition : Human MYO15A wild-type allele is located in the vicinity of 17p11.2 and is approximately 71 kb in length. This allele, which encodes unconventional myosin-XV protein, is involved in the formation of stereocilia. Mutation of the gene is associated with autosomal recessive deafness 3.;

GenBank Accession Number : AF144094;

Details

Origin ID

C125573;

UMLS CUI

C4085316;

Automatic exact mappings (from CISMeF team)
- Myosin xva [OMIM gene]
- autosomal recessive nonsyndromic deafness 3 [DO Concept]
- myosin XVA [ORDO Gene]
OMIM relation
- Myosin xva [OMIM gene]
See also inter- (CISMeF)
- Deafness, autosomal recessive 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p11.2 [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Hearing [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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