MCOLN1 Back

mucolipin 1

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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.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

MCOLN1 is highly significantly mutated in
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MCOLN1 is significantly mutated in
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MCOLN1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for MCOLN1