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],disease:Defects in GHRHR are a cause of isolated growth hormone deficiency type IB (IGHD IB) [MIM:262400], also known as pituitary dwarfism I. IGHD IB is an autosomal recessive deficiency of GH which cause short stature.,function:Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.,similarity:Belongs to the G-protein coupled receptor 2 family.,tissue specificity:Pituitary gland.,
