SRD5A1 steroid 5 alpha-reductase 1
Gene ID: 6715, updated on 2-Nov-2024Gene type: protein coding
Also known as: S5AR 1
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- Go to complete Gene record for SRD5A1
- Go to Variation Viewer for SRD5A1 variants
Summary
Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). GeneReviews: Not available |
Genomic context
- Location:
- 5p15.31
- Sequence:
- Chromosome: 5; NC_000005.10 (6633440..6674386)
- Total number of exons:
- 7
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for SRD5A1 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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