Acts upstream of or within several processes, including defense response to other organism; phospholipid homeostasis; and vesicle organization. Located in cytosol. Is expressed in axial skeleton. Used to study Chediak-Higashi syndrome; exfoliation syndrome; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Chediak-Higashi syndrome. Orthologous to human LYST (lysosomal trafficking regulator).
MGI Description
PHENOTYPE: Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells. [provided by MGI curators]