AKR1C1 aldo-keto reductase family 1 member C1
Gene ID: 1645, updated on 11-Apr-2024Gene type: protein coding
Also known as: C9; DD1; DDH; DDH1; H-37; HBAB; MBAB; HAKRC; DD1/DD2; 2-ALPHA-HSD; 20-ALPHA-HSD
- See all available tests in GTR for this gene
- Go to complete Gene record for AKR1C1
- Go to Variation Viewer for AKR1C1 variants
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| The genetic architecture of economic and political preferences. GeneReviews: Not available |
Genomic context
- Location:
- 10p15.1
- Sequence:
- Chromosome: 10; NC_000010.11 (4963415..4983283)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AKR1C1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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