MCOLN1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolMCOLN1
Namemucolipin TRP cation channel 1
Typeprotein-coding
Sourcemygene

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].

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This is an externally resolved entity

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