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Article

Mucolipidosis type IV and the mucolipins.

Biochemical Society transactions - 1 Dec 2010

Bach Gideon, Zeevi David A, Frumkin Ayala, Kogot-Levin Aviram

Abstract excerpt

MLIV (mucolipidosis type IV) is a neurodegenerative lysosomal storage disorder caused by mutations in MCOLN1, a gene that encodes TRPML1 (mucolipin-1), a member of the TRPML (transient receptor potential mucolipin) cation channels. Two additional homologues are TRPML2 and TRPML3 comprising the TRPML subgroup in the TRP superfamily. The three proteins play apparently key roles along the endocytosis process, and...

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Source

Identifiers

PMID: 21118102
DOI: 10.1042/BST0381432

Genes

GPI
MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mucolipidosis type IV and the mucolipins.PMID 21118102Read ↗

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