Symbol: Name: ID: |
MCOLN1 mucolipin 1 GFS:2967 |
Gene name: | MCOLN1 |
Chromosome: | 19p13.2 |
Previous Symbols: | |
Previous Names: | |
Aliases: | TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1890498 | Rat Genome Database ID: | RGD:1308953 |
HGNC ID: | HGNC:13356 | RefSeq IDs: | NM_020533 |
Entrez Gene ID: | 57192 | Ensembl Gene ID: | ENSG00000090674 |
VEGA IDs: | UniProt ID: | Q9GZU1 | |
UCSC ID: | uc002mgo.2 | OMIM ID: | 605248 |
Pubmed: | PMID16382100 | ||
CCDS IDs: | CCDSCCDS12180.1 |
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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis.
Products for MCOLN1 gene
Catalog | Product Name | Application | Company |
GFS:E02967 | mucolipin 1; ELISA kit | ELISA | n/a |
GFS:A02967 | mucolipin 1; Anti | ANTIBODIES | n/a |
GFS:P02967 | mucolipin 1; Protien | Protien | n/a |