HSD17B1, Official Symbol HSD17B1provided by HGNC Official Full Name hydroxysteroid 17-beta dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:5210 See related Ensembl:ENSG00000108786 MIM:109684; AllianceGenome:HGNC:5210 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E2DH; HSD17; EDHB17; EDH17B2; SDR28C1; 17-beta-HSD; 20-alpha-HSD Summary 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] Expression Biased expression in placenta (RPKM 41.1), fat (RPKM 4.7) and 11 other tissues See more Orthologs mouse all