HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
Gene ID: 3293, updated on 5-Mar-2024Gene type: protein coding
Also known as: EDH17B3; SDR12C2
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- Go to complete Gene record for HSD17B3
- Go to Variation Viewer for HSD17B3 variants
Summary
This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of smoking behaviours among Bangladeshi adults. GeneReviews: Not available | |
| Testosterone 17-beta-dehydrogenase deficiency | See labs |
Genomic context
- Location:
- 9q22.32
- Sequence:
- Chromosome: 9; NC_000009.12 (96235306..96302176, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HSD17B3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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