AHR Chromosome 7
Aryl hydrocarbon receptor
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What This Gene Does
The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|PAS domain containing"
Locus Type
gene with protein product
Location
7p21.1
Ensembl
ENSG00000106546
Associated Conditions (3)
Retinitis pigmentosa 85
Infantile nystagmus with foveal hypoplasia
Foveal hypoplasia 3
Key Variants
RS760329013
Conflicting classifications of pathogenicity
Health Risk
RS2115364513
Likely pathogenic
Health Risk
RS140760845
Pathogenic
Health Risk
RS1562481438
Pathogenic
Retinitis pigmentosa 85, Retinitis pigmentosa 85
Health Risk
RS2115370127
Pathogenic
Health Risk
RS2534449169
Pathogenic
Health Risk
RS61730147
Pathogenic
Health Risk
RS1562482694
Pathogenic/Likely pathogenic
Infantile nystagmus with foveal hypoplasia, Foveal hypoplasia 3, Infantile nystagmus with foveal hypoplasia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760329013 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2115364513 | Health Risk | Likely pathogenic | — |
| RS140760845 | Health Risk | Pathogenic | — |
| RS1562481438 | Health Risk | Pathogenic | Retinitis pigmentosa 85, Retinitis pigmentosa 85 |
| RS2115370127 | Health Risk | Pathogenic | — |
| RS2534449169 | Health Risk | Pathogenic | — |
| RS61730147 | Health Risk | Pathogenic | — |
| RS1562482694 | Health Risk | Pathogenic/Likely pathogenic | Infantile nystagmus with foveal hypoplasia, Foveal hypoplasia 3, Infantile nystagmus with foveal hypoplasia |