Aliases for HSD17B12 Gene
External Ids for HSD17B12 Gene
Previous GeneCards Identifiers for HSD17B12 Gene
This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
GeneCards Summary for HSD17B12 Gene
HSD17B12 (Hydroxysteroid 17-Beta Dehydrogenase 12) is a Protein Coding gene. Diseases associated with HSD17B12 include Qualitative Platelet Defect and Spinocerebellar Ataxia 34. Among its related pathways are Metabolism of steroid hormones and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and collagen binding. An important paralog of this gene is HSD17B3.
UniProtKB/Swiss-Prot Summary for HSD17B12 Gene
Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation.