HSD17B3 Gene - 17β-Hydroxysteroid Dehydrogenase Type 3
Key enzyme in androgen biosynthesis and male sexual development
Gene Information Card
| Symbol | HSD17B3 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.32 |
| NCBI Gene ID | 3293 ncbi.nlm.nih.gov/gene/3293 |
| Ensembl ID | ENSG00000130948 |
| UniProt ID | P37058 |
| OMIM ID | 264300 |
| HGNC ID | 5212 |
| Aliases | 17β-HSD3, EDH17B3, SDR12C2 |
Description
The HSD17B3 gene encodes 17β-hydroxysteroid dehydrogenase type 3, an enzyme primarily expressed in the testes that catalyzes the reduction of androstenedione to testosterone. This reaction is essential for androgen biosynthesis and normal male sexual differentiation. Mutations in HSD17B3 cause 46,XY disorder of sex development (46,XY DSD) due to testosterone deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 46,XY Disorder of Sex Development (46,XY DSD) due to 17β-HSD3 deficiency | Loss-of-function mutations impair conversion of androstenedione to testosterone, leading to undervirilization in males | ClinVar, OMIM #264300 |
| Male Pseudohermaphroditism | Deficient testosterone synthesis results in ambiguous genitalia at birth | OMIM #264300 |
| Prostate Cancer | Polymorphisms in HSD17B3 may alter androgen levels and influence prostate cancer risk | NCBI Gene, literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.6 | High |
| Adrenal Gland | 0.4 | Low |
| Prostate | 0.2 | Low |
| Ovary | 0.1 | Low |
| Liver | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H660 (prostate cancer) | 0.3 | Low expression |
| MCF7 (breast cancer) | 0.1 | Very low |
| LNCaP (prostate cancer) | 0.2 | Low |
| HepG2 (liver) | 0.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.277+1G>A | Splice donor | Rare | Loss of function; associated with 46,XY DSD |
| c.325+4A>G | Splice site | Rare | Loss of function; causes exon skipping |
| p.Arg80Trp | Missense | Rare | Reduced enzyme activity |
| p.Gly289Ser | Missense | Rare | Impaired catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in HSD17B3 are loss-of-function, leading to reduced or absent 17β-HSD3 enzyme activity and impaired testosterone synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been described in HSD17B3.
Dominant Negative (DN)
No dominant-negative effects have been reported for HSD17B3 mutations.
View complete mutation data：
Gene Ontology (GO)
| • 3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003854) | • estradiol 17-beta-dehydrogenase activity (GO:0004303) |
| • steroid binding (GO:0005496) | • androgen biosynthetic process (GO:0006702) |
| • male gonad development (GO:0008584) | • oxidoreductase activity (GO:0016491) |
Pathways
• Androgen biosynthesis (Reactome: R-HSA-196015)
• Metabolism of steroids (Reactome: R-HSA-8957322)
• Sexual differentiation (KEGG: hsa04913)
Protein Summary
17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is a 310-amino acid microsomal enzyme belonging to the short-chain dehydrogenase/reductase (SDR) family. It catalyzes the NADPH-dependent reduction of androstenedione to testosterone, a critical step in androgen biosynthesis. The enzyme is predominantly expressed in the testes, with minimal expression in other tissues. Defects in HSD17B3 cause 46,XY disorder of sex development due to testosterone deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B3 Knockout HEK293 Cell Line | EDJ-KQ4949 | Human | 3293 | Details Get a Quote |
| HSD17B3 Knockout HeLa Cell Line | EDJ-KQ53577 | Human | 3293 | Details Get a Quote |
| HSD17B3 Knockout A-549 Cell Line | EDJ-KQ62043 | Human | 3293 | Details Get a Quote |
| HSD17B3 Knockout HCT 116 Cell Line | EDJ-KQ70525 | Human | 3293 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
