基因名:
DHRS11
产品别名:
ARPG836; SDR24C1; spDHRS11; DHRS11; dehydrogenase/reductase 11; dehydrogenase/reductase 11; dehydrogenase/reductase SDR family member 11; 17-beta-hydroxysteroid dehydrogenase; 3-beta-hydroxysteroid 3-dehydrogenase; dehydrogenase/reductase (SDR family) member 11; estradiol 17-beta-dehydrogenase; short-chain dehydrogenase/reductase family 24C member 1; DHRS11蛋白;
背景信息:
DHRS11 is a 260 amino acid secreted protein. Belonging to the short-chain dehydrogenases/reductases (SDR) family, DHRS11 forms a homotetramer and is expressed as two isoforms produced by alternative splicing events. The gene that encodes DHRS11 maps to human chromosome 17, which makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.