NCBI Description of MCOLN1
|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.|
Community Annotation of MCOLN1 Add / Edit MCOLN1: Annotations
No community annotations yet for MCOLN1.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.