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基因注释:LHCGR

官方信息

官方名称:luteinizing hormone/choriogonadotropin receptor

功能摘要: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].

作为靶基因的剪接因子
  • Ptbp2 综合评分: 0.200 · 证据 1 条
  • Rbmx 综合评分: 0.198 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
关联疾病

该基因暂无关联疾病记录

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