Growth Hormone Releasing Hormone Receptor (GHRHR)
GHRFR; GHRHRpsv; GRFR
The growth hormone releasing hormone receptor
(GHRHR) is a G-protein coupled receptor which binds growth hormone releasing hormone.This gene, expressed in the pituitary, 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. Many alternate transcriptional splice variants encoding different isoforms have been described, but only two have been characterized to date.Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.