OXGR1 Chromosome 13
Oxoglutarate receptor 1
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What This Gene Does
This gene encodes a G protein-coupled receptor (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
Oxoglutarate receptor
Locus Type
gene with protein product
Location
13q32.1
Ensembl
ENSG00000165621
Associated Conditions (4)
Nephrolithiasis
calcium oxalate
2
with or without nephrocalcinosis
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780034038 | Health Risk | Likely pathogenic | Nephrolithiasis, calcium oxalate, 2 |
| RS1305041953 | Health Risk | Pathogenic | Nephrolithiasis, calcium oxalate, 2 |
| RS2501845489 | Health Risk | Pathogenic | Nephrolithiasis, calcium oxalate, 2 |