AKR1D1 Chromosome 7
Aldo-keto reductase family 1 member D1
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What This Gene Does
The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Aldo-keto reductases
Locus Type
gene with protein product
Location
7q33
Ensembl
ENSG00000122787
Associated Conditions (4)
Congenital bile acid synthesis defect 2
Inborn genetic diseases
AKR1D1-related disorder
Congenital bile acid synthesis defect
Key Variants
RS117215714
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
Health Risk
RS121918342
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
Health Risk
RS143101649
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
Health Risk
RS143960528
Conflicting classifications of pathogenicity
Inborn genetic diseases, AKR1D1-related disorder, Inborn genetic diseases
Health Risk
RS149920599
Conflicting classifications of pathogenicity
AKR1D1-related disorder, AKR1D1-related disorder
Health Risk
RS187887082
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
Health Risk
RS200261541
Conflicting classifications of pathogenicity
AKR1D1-related disorder, AKR1D1-related disorder
Health Risk
RS200829661
Conflicting classifications of pathogenicity
Health Risk
RS267606649
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
Health Risk
RS567335712
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
Health Risk
RS753124330
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
Health Risk
RS756630815
Conflicting classifications of pathogenicity
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117215714 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS121918342 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS143101649 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS143960528 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, AKR1D1-related disorder, Inborn genetic diseases |
| RS149920599 | Health Risk | Conflicting classifications of pathogenicity | AKR1D1-related disorder, AKR1D1-related disorder |
| RS187887082 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS200261541 | Health Risk | Conflicting classifications of pathogenicity | AKR1D1-related disorder, AKR1D1-related disorder |
| RS200829661 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS267606649 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS567335712 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS753124330 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS756630815 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1315777461 | Health Risk | Likely pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS1337598962 | Health Risk | Likely pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS1554394506 | Health Risk | Likely pathogenic | — |
| RS1562938039 | Health Risk | Likely pathogenic | — |
| RS201988060 | Health Risk | Likely pathogenic | — |
| RS2117434759 | Health Risk | Likely pathogenic | — |
| RS2536095242 | Health Risk | Likely pathogenic | AKR1D1-related disorder, AKR1D1-related disorder |
| RS575025641 | Health Risk | Likely pathogenic | — |
| RS749744865 | Health Risk | Likely pathogenic | AKR1D1-related disorder, AKR1D1-related disorder |
| RS759908186 | Health Risk | Likely pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS916587979 | Health Risk | Likely pathogenic | — |
| RS121918343 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS1236669456 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS1433614577 | Health Risk | Pathogenic/Likely pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS182820353 | Health Risk | Pathogenic/Likely pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS267606650 | Health Risk | Pathogenic/Likely pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect, Congenital bile acid synthesis defect 2 |
| RS749224036 | Health Risk | Pathogenic/Likely pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS770247815 | Health Risk | Pathogenic/Likely pathogenic | Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |