Protein Name mucolipin TRP cation channel 1
Organism Homo sapiens
Gene ID 57192
Gene Symbol

MCOLN1

UniProt Q9GZU1 (MCLN1_HUMAN)
Relationships Total Number of functionally related compound(s) : 131
Total Number of Articles : 117
Description

mucolipin TRP cation channel 1

Gene 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]

synonyms
  • mucolipin-1
  • mucolipidin
  • mucolipidosis type IV protein
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Properties