Gene Symbol | MCOLN1 |
Entrez Gene ID | 57192 |
Full Name | mucolipin 1 |
Synonyms | MG-2,ML1,ML4,MLIV,MST080,MSTP080,TRP-ML1,TRPM-L1,TRPML1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a memberof 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 mucolipidosis type IV. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Mucolipidosis IV, 252650 (3) |