MYO5A

Myosin-Va is a is_associated_with::protein that in humans is encoded by the MYO5A is_associated_with::gene.

Model organisms
is_associated_with::Model organisms have been used in the study of MYO5A function. A conditional is_associated_with::knockout mouse line, called Myo5atm1e(KOMP)Wtsi was generated as part of the is_associated_with::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 is_associated_with::phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on is_associated_with::mutant mice and three significant abnormalities were observed. Male is_associated_with::homozygous mutants had abnormal hair cycles, coat colouration and an increased susceptibility to is_associated_with::bacterial infection.

Interactions
MYO5A has been shown to interact with is_associated_with::DYNLL1, is_associated_with::RAB27A and is_associated_with::DYNLL2.

Clinical significance
Defects are associated with is_associated_with::Griscelli syndrome type 1, also known as is_associated_with::Elejalde syndrome.