基因注释：GHRHR
官方信息
官方名称：growth hormone releasing hormone receptor
功能摘要：This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010].
作为靶基因的剪接因子
- Tardbp 综合评分: 0.248 · 证据 1 条
关联疾病
该基因暂无关联疾病记录