基因名:
Hsd17b13
产品别名:
AI047820; PAN1B-like; Pan1b; Hsd17b13; hydroxysteroid (17-beta) dehydrogenase 13; hydroxysteroid (17-beta) dehydrogenase 13; 17-beta-hydroxysteroid dehydrogenase 13; 17-beta-HSD 13; short-chain dehydrogenase/reductase 9; 17β羟基类固醇脱氢酶13/17β-HSD13;
背景信息:
17 beta-HSD13 (17 beta hydroxysteroid dehydrogenase type 13), also designated Short-chain dehydrogenase/reductase 9 (SCDR9), belongs to the 17 beta-HSD family of proteins, which regulate the availability of steroids within various tissues throughout the body. 17 beta-HSD13 is a 300 amino acid secreted protein that is highly expressed in liver and is also detected in ovary, bone marrow, kidney, brain, lung, skeletal muscle, bladder and testis. The gene encoding 17 beta-HSD13 maps to chromosome 4, which houses nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.