MCOLN1

mucolipin TRP cation channel 1

2 disorders 1 no genetic record 1 causative 19p13.2 gene with protein product

HGNC:13356 Monarch NCBI Gene 57192 ENSG00000090674 UniProt Q9GZU1 OMIM 605248

Aliases: TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Mucolipidosis Type IV	causative germline	mechanism: TRPML1 Channel Dysfunction and Autophagic-Lysosomal Failure
Corneal Dystrophy	no genetic record	mechanism: Layer-Restricted Corneal Deposition or Cellular Failure subtype: LECD

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
mucolipidosis type IV MONDO:0009653	AR	Definitive 2022-09-14	Mucolipidosis Type IV causative

Mechanism modules · computed from kb/

lysosomal_substrate_accumulation via Mucolipidosis Type IV

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.