title: The TRPML3 channel: from gene to function.
abstract: TRPML3 is a transient receptor potential (TRP) channel that is encoded by the mucolipin 3 gene (MCOLN3), a member of the small mucolipin gene family. Mcoln3 shows a broad expression pattern in embryonic and adult tissues that includes differentiated cells of skin and inner ear. Dominant mutant alleles of murine Mcoln3 cause embryonic lethality, pigmentation defects and deafness. The TRPML3 protein features a six-transmembrane topology and functions as a Ca(2+) permeable inward rectifying cation channel that is open at sub-physiological pH and closes as the extracytosolic pH becomes more acidic. TRPML3 localizes to the plasmamembrane and to early- and late-endosomes as well as lysosomes. Recent advances suggest that TRPML3 may regulate the acidification of early endosomes, hence playing a critical role in the endocytic pathway.
authors.affiliation: Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, Rockville, MD 20850, USA. nobentk@nidcd.nih.gov
authors.forename: Konrad
authors.initials: K
authors.lastname: Noben-Trauth
mesh_terms: D000483:Alleles; D000818:Animals; D004705:Endocytosis; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D050051:Transient Receptor Potential Channels / Q000235:genetics* / Q000502:physiology*
chemical_list: C510642:MCOLN3 protein, human; D050051:Transient Receptor Potential Channels