This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008],alternative products:Additional isoforms seem to exist,disease:Defects in LHCGR are a cause of familial male precocious puberty (FMPP) [MIM:176410], also known as testotoxicosis. In FMPP the receptor is constitutively activated.,disease:Defects in LHCGR are a cause of Leydig cell hypoplasia (LCH) [MIM:152790]. LCH is an autosomal recessive disease characterized by male pseudohermaphroditism. In LCH the testes are small with marked immaturity of the Leydig cells which correlates with undetectable plasma testosterone levels and elevated gonadotropins.,function:Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.,online information:Glycoprotein-hormone Receptors Information System,similarity:Belongs to the G-protein coupled receptor 1 family.,similarity:Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.,similarity:Contains 7 LRR (leucine-rich) repeats.,tissue specificity:Gonadal and thyroid cells.,
