rs141168886

This variant is located in the MCOLN1 gene.

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ClinVar annotation

Conflicting Classifications

3 submitters2 publications

Mucolipidosis type IV; not provided

About 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. [provided by RefSeq, Oct 2009]

View all MCOLN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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