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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MCOLN1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID57192
Official gene symbolMCOLN1
Full namemucolipin 1
Aliases,ML4,MLIV,MST080,MSTP080,TRP-ML1,TRPM-L1,TRPML1,
Gene summaryThis 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]
LocationChromosome: 19   Locus: 19p13.3-p13.2
Gene position7587496 - 7598895  Map Viewer
Gene orientationplus
Gene size11400 bp
Gene sequence
OMIM ID605248