Species Human Entrez 4644 | Human Mouse Ensembl ENSG00000197535 | |
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Aliases MYO5A, GS1, MYH12, MYO5, MYR12, myosin VA External IDs OMIM: 160777 MGI: 105976 HomoloGene: 20100 GeneCards: MYO5A | ||
Myosin-Va is a protein that in humans is encoded by the MYO5A gene.
Contents
Interactions
MYO5A has been shown to interact with DYNLL1, RAB27A and DYNLL2.
Clinical significance
Defects are associated with Griscelli syndrome type 1, also known as Elejalde syndrome.
Model organisms
Model organisms have been used in the study of MYO5A function. A conditional knockout mouse line, called Myo5atm1e(KOMP)Wtsi was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on mutant mice and three significant abnormalities were observed. Male homozygous mutants had abnormal hair cycles, coat colouration and an increased susceptibility to bacterial infection.