Entrez gene ID | | 57192 |
Official gene symbol | | MCOLN1 |
Full name | | mucolipin 1 |
Aliases | | ,ML4,MLIV,MST080,MSTP080,TRP-ML1,TRPM-L1,TRPML1, |
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] |
Location | | Chromosome: 19 Locus: 19p13.3-p13.2 |
Gene position | | 7587496 - 7598895 Map Viewer |
Gene orientation | | plus |
Gene size | | 11400 bp |
Gene sequence |
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OMIM ID | | 605248 |
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