基因名:
HSD17B1
产品别名:
17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2; EDHB17; HSD17; SDR28C1; HSD17B1; hydroxysteroid 17-beta dehydrogenase 1; hydroxysteroid 17-beta dehydrogenase 1; 17-beta-hydroxysteroid dehydrogenase type 1; 17-beta-HSD 1; 20 alpha-hydroxysteroid dehydrogenase; estradiol 17-beta-dehydrogenase 1; placental 17-beta-hydroxysteroid dehydrogenase; short chain dehydrogenase/reductase family 28C member 1; short chain dehydrogenase/reductase family 28CE, member 1; 17-β-羟基类固醇脱氢酶1(HSD17b1); 羟类固醇脱氢酶17β; 羟类固醇脱氢酶17β-HSD;
背景信息:
This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]