HSD17B6: Hydroxysteroid 17-Beta Dehydrogenase 6
A key enzyme in steroid metabolism, involved in androgen and estrogen biosynthesis and inactivation.
Gene Information Card
| Symbol | HSD17B6 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 8630 ncbi.nlm.nih.gov/gene/8630 |
| Ensembl ID | ENSG00000135423 |
| UniProt ID | O14756 |
| OMIM ID | 604900 |
| HGNC ID | 5213 |
| Aliases | 17beta-HSD6, SDR9C6, RODH, HSD17B6 |
Description
HSD17B6 encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the oxidation and reduction of 17-beta-hydroxysteroids, including the conversion of androstanediol to dihydrotestosterone (DHT) and the inactivation of estradiol to estrone. It plays a role in steroid hormone metabolism in tissues such as liver, prostate, and skin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered androgen metabolism via DHT synthesis; overexpression may promote tumor growth | PMID: 14525967 |
| Benign prostatic hyperplasia (BPH) | Increased local DHT production from androstanediol | PMID: 15634788 |
| Hirsutism | Enhanced peripheral androgen activation | PMID: 10843163 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Prostate | 8.3 | Medium |
| Skin | 6.1 | Low |
| Adrenal gland | 4.8 | Low |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| LNCaP | 9.7 | Prostate cancer cell line |
| HaCaT | 5.4 | Keratinocyte cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.325G>A | missense | <0.01% | p.Gly109Arg; reduced enzyme activity |
| c.674C>T | nonsense | <0.01% | p.Arg225*; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish enzymatic activity (e.g., p.Gly109Arg, p.Arg225*).
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported in literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
| • 3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854) | • oxidoreductase activity (GO:0016491) |
| • steroid biosynthetic process (GO:0006694) | • steroid metabolic process (GO:0008202) |
| • endoplasmic reticulum membrane (GO:0005789) |
Pathways
• Androgen and estrogen metabolism (Reactome: R-HSA-196854)
• Steroid hormone biosynthesis (KEGG: hsa00140)
Protein Summary
HSD17B6 is a 317-amino acid protein localized to the endoplasmic reticulum membrane. It functions as a 17-beta-hydroxysteroid dehydrogenase with dual oxidative and reductive activities, preferentially using NADP(H) as cofactor. The enzyme is critical for the conversion of 5-alpha-androstane-3-alpha,17-beta-diol to DHT in peripheral tissues, and for the inactivation of estradiol to estrone in the liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B6 Knockout HEK293 Cell Line | EDJ-KQ6305 | Human | 8630 | Details Get a Quote |
| HSD17B6 Knockout A-549 Cell Line | EDJ-KQ30211 | Human | 8630 | Details Get a Quote |
| HSD17B6 Knockout HCT 116 Cell Line | EDJ-KQ30212 | Human | 8630 | Details Get a Quote |
| HSD17B6 Knockout HeLa Cell Line | EDJ-KQ54959 | Human | 8630 | Details Get a Quote |
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