ML4
ARMucolipidosis IV
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.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ML4?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ML4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Mucolipidosis Type IV Natural History Study
RECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGSafety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools