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ML4

Mucolipidosis IV

NCBI Gene: 50961 UniProt: Q9GZU1 OMIM: 252650

MCOLN1 encodes TRPML1, a calcium-permeable cation channel that regulates calcium release from lysosomes and late endosomes, which is essential for lysosomal trafficking, autophagy, and cellular metal homeostasis. Mutations cause mucolipidosis IV, a progressive neurodevelopmental disorder with intellectual disability, motor delays, and distinctive ophthalmologic findings that typically manifest in infancy. This condition follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from OMIM, UniProt

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mucolipidosis IVMIM #252650

UniProtMucolipidosis 4

UniProtCorneal dystrophy, Lisch epithelial

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Mucolipidosis IV; no ClinGen or GenCC tier

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

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — ML4