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Article

Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.

The Journal of biological chemistry - 14 Dec 2007

Kim Hyun Jin, Li Qin, Tjon-Kon-Sang Sandra, So Insuk, Kiselyov Kirill, Muallem Shmuel

Abstract excerpt

TRPML3 is a member of the TRPML subfamily of the transient receptor potential cation channel superfamily. The TRPML3(A419P) mutation causes a severe form, whereas the TRPML3(I362T/A419P) mutation results in a mild form of the varitint-waddler phenotype. The channel properties of TRPML3 and how the mutations cause each phenotype are not known. In this study, we report the first channel properties of TRPML3 as a...

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Source

Identifiers

PMID: 17962195
DOI: 10.1074/jbc.C700190200

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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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Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.PMID 17962195Read ↗

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