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MCOLN1 / Mucolipin 1 is 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.
Gene Name: | mucolipin 1 |
Family/Subfamily: | Ion Channel , Calcium channel - TRP |
Synonyms: | MCOLN1, MLIV, ML4, Mucolipidin, Mucolipin 1, MSTP080, Mucolipidosis type IV protein, Mucolipin-1, TRP-ML1, TRPM-L1, MG-2, MST080, TRPML1 |
Target Sequences: | NM_020533 NP_065394.1 Q9GZU1 |
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