A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype.

doi:10.1038/emboj.2008.56

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Article

A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype.

The EMBO journal - 23 Apr 2008

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

Abstract excerpt

TRPML3 belongs to the TRPML subfamily of the transient receptor potential (TRP) channels. The A419P mutation in TRPML3 causes the varitint-waddler phenotype as a result of gain-of-function mutation (GOF). Regulation of the channels and the mechanism by which the A419P mutation leads to GOF are not known. We report here that TRPML3 is a Ca(2+)-permeable channel with a unique form of regulation by extracytosolic...

Topics

Amino Acid Substitution
Calcium
Cell Line
Cytosol
Humans
Hydrogen-Ion Concentration
Mucolipidoses
Phenotype
Protein Structure, Tertiary
Transient Receptor Potential Channels

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Identifiers

PMID: 18369318
DOI: 10.1038/emboj.2008.56
PMCID: PMC2367400

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