Mucolipin 3 Products

Description

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.

Bioinformatics

Entrez	171166 Mouse 55283 Human
Uniprot	NM_018298 Human Q8R4F0 Mouse Q8TDD5 Human
Product By Gene ID	55283
Alternate Names	FLJ11006 FLJ36629 MGC71509 mucolipin 3 mucolipin-3 TRPML3 TRP-ML3