C122882Level 5
MYO5A wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - Dilute, Mouse, Homolog of Gene - GS1 - MYH12 - MYO5 - MYR12 - Myosin VA (Heavy Chain 12, Myoxin) wt Allele - Myosin VA (Heavy Polypeptide 12, Myoxin) Gene - Myosin, Heavy Chain 12 Gene - Myosin, Heavy Polypeptide Kinase Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.