TRPM5 Chromosome 11

Transient receptor potential cation channel subfamily M member 5
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
Transient receptor potential cation channels
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000070985
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS138197888 Health Risk Conflicting classifications of pathogenicity
RS373236287 Health Risk Conflicting classifications of pathogenicity
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