TRPM5 Chromosome 11
Transient receptor potential cation channel subfamily M member 5
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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 | — |