AKR1D1 aldo-keto reductase family 1 member D1
Gene ID: 6718, updated on 11-Apr-2024Gene type: protein coding
Also known as: CBAS2; SRD5B1; 3o5bred
- See all available tests in GTR for this gene
- Go to complete Gene record for AKR1D1
- Go to Variation Viewer for AKR1D1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Congenital bile acid synthesis defect 2 | See labs |
| Genome-wide association of mood-incongruent psychotic bipolar disorder. GeneReviews: Not available |
Genomic context
- Location:
- 7q33
- Sequence:
- Chromosome: 7; NC_000007.14 (138076459..138118305)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AKR1D1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AKR1D1 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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