Aliases for MCOLN1 Gene
External Ids for MCOLN1 Gene
Previous GeneCards Identifiers for MCOLN1 Gene
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, Oct 2009]
GeneCards Summary for MCOLN1 Gene
MCOLN1 (Mucolipin 1) is a Protein Coding gene. Diseases associated with MCOLN1 include Mucolipidosis Iv and Cerebral Palsy, Ataxic, Autosomal Recessive. Among its related pathways are Insulin receptor recycling and Ion channel transport. GO annotations related to this gene include cation channel activity and NAADP-sensitive calcium-release channel activity. An important paralog of this gene is MCOLN3.
UniProtKB/Swiss-Prot for MCOLN1 Gene
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.