Article
TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms.
Proceedings of the National Academy of Sciences of the United States of America - 10 Oct 2017
Chao Yu-Kai, Schludi Verena, Chen Cheng-Chang, Butz Elisabeth, Nguyen O N Phuong, Müller Martin, Krüger Jens, Kammerbauer Claudia, Ben-Johny Manu, Vollmar Angelika M, Berking Carola, Biel Martin, Wahl-Schott Christian A, Grimm Christian
Abstract excerpt
Two-pore channels (TPCs) are endolysosomal cation channels. Two members exist in humans, TPC1 and TPC2. Functional roles associated with the ubiquitously expressed TPCs include VEGF-induced neoangiogenesis, LDL-cholesterol trafficking and degradation, physical endurance under fasting conditions, autophagy regulation, the acrosome reaction in sperm, cancer cell migration, and intracellular trafficking of pathogens...
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