Predicted to enable protein kinase binding activity. Predicted to be involved in protein localization. Predicted to be located in cytosol and membrane. Expressed in neurons and pharyngeal cell.
Predicted to enable G protein-coupled photoreceptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway; cellular response to light stimulus; and phototransduction. Predicted to be located in plasma membrane. Expressed in ventral cord neurons. Human ortholog(s) of this gene implicated in hypertension. Is an ortholog of human PRLHR (prolactin releasing hormone receptor).
Involved in pigmentation. Predicted to be located in cytosol and microtubule cytoskeleton. Used to study Chediak-Higashi syndrome. Human ortholog(s) of this gene implicated in Chediak-Higashi syndrome. Orthologous to human LYST (lysosomal trafficking regulator); INTERACTS WITH 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol; 17beta-estradiol.
mauve (mv) encodes a member of the family of beige and Chediak-Higashi syndrome (BEACH)-domain containing proteins. Proteins in this family function to restrain the size of lysosomes and lysosome-related organelles.
Endosomal protein involved in endocytosis and autophagy; homologous to Chediak-Higashi syndrome and Beige proteins, both of which are implicated in disease syndromes in human and mouse, respectively, due to defective lysosomal trafficking; mutant phenotype and genetic interactions suggest a role in protein sorting
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]