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Article

Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.

Proceedings of the National Academy of Sciences of the United States of America - 13 Nov 2007

Xu Haoxing, Delling Markus, Li Linyu, Dong Xianping, Clapham David E

Abstract excerpt

Transient receptor potential (TRP) genes of the mucolipin subfamily (TRPML1-3 and MCOLN1-3) are presumed to encode ion channel proteins of intracellular endosomes and lysosomes. Mutations in human TRPML1 (mucolipin 1/MCOLN1) result in mucolipidosis type IV, a severe inherited neurodegenerative disease associated with defective lysosomal biogenesis and trafficking. A mutation in mouse TRPML3 (A419P; TRPML3(Va))...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17989217
DOI: 10.1073/pnas.0709096104
PMCID: PMC2084341

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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