MYO5A wt Allele

Preferred Label : MYO5A wt Allele;

NCIt synonyms : Myosin VA (Heavy Polypeptide 12, Myoxin) Gene; MYO5; Myosin, Heavy Chain 12 Gene; Dilute, Mouse, Homolog of Gene; Myosin, Heavy Polypeptide Kinase Gene; MYH12; Myosin VA (Heavy Chain 12, Myoxin) wt Allele; GS1; MYR12;

NCIt definition : Human MYO5A wild-type allele is located in the vicinity of 15q21 and is approximately 222 kb in length. This allele, which encodes unconventional myosin-Va protein, plays a role in melanosome transport along actin filaments. Mutation of the gene is associated with Elejalde disease and Griscelli syndrome types-1 and -3.;

NCIt note : A fusion involving the MYO5A gene and the ROS1 gene may be associated with Spitz-like nevi. (COSMIC);

GenBank Accession Number : NM_000259;

Details

Origin ID

C122882;

UMLS CUI

C4049734;

Automatic exact mappings (from CISMeF team)
- Griscelli syndrome type 1 [DO Concept]
- Griscelli syndrome, type 1 [OMIM Phenotype]
- Myosin va [OMIM gene]
- myosin VA [ORDO Gene]
OMIM relation
- Myosin va [OMIM gene]
See also inter- (CISMeF)
- Griscelli syndrome type 1 [ICD-11 More detail]
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
- 15q21 [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Intracellular Transport [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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