Aliases for HSD17B7 Gene
- Hydroxysteroid 17-Beta Dehydrogenase 7 2 3 5
- SDR37C1 2 3 4
- 3-Keto-Steroid Reductase/17-Beta-Hydroxysteroid Dehydrogenase 7 3 4
- Short Chain Dehydrogenase/Reductase Family 37C Member 1 3 4
- 17-Beta-Hydroxysteroid Dehydrogenase 7 3 4
- Dihydrotestosterone Oxidoreductase 3 4
- Estradiol 17-Beta-Dehydrogenase 7 3 4
- 3-Keto-Steroid Reductase 3 4
- 17-Beta-HSD 7 3 4
External Ids for HSD17B7 Gene
Previous GeneCards Identifiers for HSD17B7 Gene
HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 188.8.131.52) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 184.108.40.2060) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
GeneCards Summary for HSD17B7 Gene
HSD17B7 (Hydroxysteroid 17-Beta Dehydrogenase 7) is a Protein Coding gene. Diseases associated with HSD17B7 include Ck Syndrome and Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects. Among its related pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and cholesterol biosynthesis I. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is WWOX.
UniProtKB/Swiss-Prot Summary for HSD17B7 Gene
Bifunctional enzyme involved in steroid-hormone metabolism and cholesterol biosynthesis (PubMed:12574203, PubMed:12732193, PubMed:12829805, PubMed:20659585, PubMed:19772289, PubMed:11165030). Catalyzes the NADP(H)-dependent reduction of estrogens and androgens and regulates the biological potency of these steroids. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts dihydrotestosterone (DHT) to its inactive form 5a-androstane-3b,17b-diol (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts moderately progesterone to 3beta-hydroxypregn-4-ene-20-one, leading to its inactivation (PubMed:12574203, PubMed:12732193). Additionally, participates in the post-squalene cholesterol biosynthesis, as a 3-ketosteroid reductase (PubMed:12829805, PubMed:20659585, PubMed:11165030).
[Isoform 3]: Does not have enzymatic activities toward E1 and DHT.