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TPCN2 |
LOCUS ID | 219931 |
GENE_SYMBOL | TPCN2 |
GENE NAME | two pore segment channel 2 |
SYNONYMNS | TPC2 SHEP10 |
CHROMOSOME | 11 |
HOMOLOGENE ID | 16375 |
GENE SUMMARY |
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This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009] |