MCOLN1

Aliases 
ML4, MLIV, MST080, TRP-ML1, TRPM-L1, TRPML1
Chromosomal Locations 
19p13.3-p13.2

This gene encodes a member of the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis.

The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipids type IV.

Description 
mucolipin 1 MG-2 mucolipidin mucolipidosis type IV protein mucolipin-1