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MCOLN1 - mucolipin TRP cation channel 1
- Synonym(s) : ML4, MLIV, MST080, MSTP080, mucolipidosis type IV, transient receptor potential cation channel mucolipin subfamily member 1, transient receptor potential mucolipin 1, TRPML1, TRPM-L1
- Previous symbols and names : mucolipin 1
- Type : gene with protein product
- Chromosomal location : 19p13.2
- OMIM: 605248
- HGNC: 13356
- UniProtKB: Q9GZU1
- Genatlas: MCOLN1
- GenCC: MCOLN1
- Ensembl: ENSG00000090674
- IUPHAR-DB: 501
- Reactome: Q9GZU1
- LOVD: MCOLN1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Mucolipidosis type IV
ORPHA:578 
: AssessedAdditional information
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Research activities on this gene
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