MYO3A wt Allele

Preferred Label : MYO3A wt Allele;

NCIt synonyms : DFNB30; Deafness, Autosomal Recessive 30 Gene; Myosin III Gene; Myosin IIIA wt Allele;

NCIt definition : Human MYO3A wild-type allele is located in the vicinity of 10p12.1 and is approximately 278 kb in length. This allele, which encodes myosin-IIIa protein, is involved in motor and kinase activity in the retina and cochlea. Mutation of the gene is associated with autosomal recessive deafness 30.;

NCI Metathesaurus CUI : CL1773716;

GenBank Accession Number : AF229172;

Details

Origin ID

C185546;

UMLS CUI

C5575524;

Automatic exact mappings (from CISMeF team)
- Deafness, autosomal recessive 30 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 30 [DO Concept]
- deafness, autosomal recessive 30 [MeSH Supplementary Concept]
OMIM relation
- Myosin iiia [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10p12.1 [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Hearing [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Visual Perception [NCIt concept]

Keyword's position in hierarchy(ies) :

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