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mcoln1

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Official Full Name
mucolipin 1
Background
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.
Synonyms
MCOLN1; mucolipin 1; mucolipin-1; ML4; MLIV; MST080; MSTP080; TRPM L1; TRPML1; MCLN1_HUMAN; Mcoln 1; MG 2; MG-2; MG2; ML 4; Mucolipidin; Mucolipin1; TRP ML1; mucolipidosis type IV protein; TRP-ML1; TRPM-L1

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