Description
Product Characteristics: SUBCELLULAR LOCATION: Membrane, Multi-pass membrane protein.
Tissue specificity: Expressed in the cochlea, particularly in the inner and outer hair cells. DISEASE: Defects in Mcoln3 are the cause of the varitin-waddler (Va) phenotype. Classical Va mice exhibit early-onset hearing loss, vestibular defects, pigmentation abnormalities and perinatal lethality. The phenotype varitin-waddler Jackcon (Va-J), which arose in a cross segregating for Va, is similar but less severe. SIMILARITY: Belongs to the transient receptor family, polycystin subfamily. Also known as: MCLN3,Mucolipin 3, Va, TRPML3.
Target Information: This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]