TRPV5 Chromosome 7
Transient receptor potential cation channel subfamily V member 5
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What This Gene Does
This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Transient receptor potential cation channels|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000127412
Associated Conditions (1)
Renal Calcium Wasting Hypercalciuria
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369644548 | Health Risk | Pathogenic | Renal Calcium Wasting Hypercalciuria, Renal Calcium Wasting Hypercalciuria |