MCOLN1

Chr 19ADAR

mucolipin TRP cation channel 1

Also known as: LECD, MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1

NCBI Gene: 57192 ENSG00000090674 UniProt: Q9GZU1 OMIM: 605248

This gene encodes a TRP cation channel that localizes to lysosomal and late endosomal membranes, where it transports calcium, iron, sodium, potassium, and hydrogen ions to regulate lysosomal exocytosis and the late endocytic pathway. Mutations cause mucolipidosis type IV through autosomal recessive inheritance and Lisch epithelial corneal dystrophy through autosomal dominant inheritance. The pathogenic mechanism involves gain-of-function changes to the channel's ion transport properties.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Lisch epithelial corneal dystrophyMIM #620763

Mucolipidosis IVMIM #252650

UniProtMucolipidosis 4

UniProtCorneal dystrophy, Lisch epithelial

Clinical highlights

Gene-disease validity (ClinGen)

mucolipidosis type IV · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.60

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MCOLN1