Mucolipin-3 (TRPML3) (TRPML3)

Mucolipin-3 (TRPML3) is a member of the transient receptor potential (TRP) ion channel superfamily, specifically belonging to the mucolipin subfamily (UniProt, Q8TDD5). It is primarily localized to the membranes of endosomes and lysosomes, where it functions as a non-selective cation channel permeable to calcium, sodium, and potassium (PubMed, 20471015). TRPML3 plays a critical role in regulating endolysosomal trafficking, autophagy, and the maintenance of ionic homeostasis within acidic organelles (PubMed, 25117417). In the inner ear, it is essential for the development and function of hair cell stereocilia, and mutations in the MCOLN3 gene are associated with the 'Varitint-waddler' phenotype in mice, characterized by deafness and vestibular defects (PubMed, 12410311). Beyond the ear, TRPML3 is involved in skin pigmentation and the exocytosis of large secretory granules in various cell types (PubMed, 20471015). While currently a subject of intense research for its role in lysosomal biology, TRPML3 is being explored as a potential therapeutic target for conditions involving impaired endolysosomal function. Small molecule agonists like SN-2 have been developed to study its physiological roles and therapeutic potential (PubMed, 23934154).

Other names

MCOLN3Transient receptor potential mucolipin 3TRP-ML3Mucolipin 3

Agonism or antagonism of the TRPML3 cation channel to modulate endolysosomal calcium release and trafficking.