Aliases for HSD17B7 Gene
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 184.108.40.206) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 220.127.116.110) 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 X-Linked Chondrodysplasia Punctata 2 and Fetal Akinesia Deformation Sequence 1. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Androstenedione and testosterone biosynthesis and metabolism p.1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is RDH16.
UniProtKB/Swiss-Prot Summary for HSD17B7 Gene
Responsible for the reduction of the keto group on the C-3 of sterols.