GHRHR

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.

Full Name

growth hormone releasing hormone receptor

Function

Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.

Biological Process

Activation of adenylate cyclase activity Source: Ensembl
Adenylate cyclase-activating G protein-coupled receptor signaling pathway Source: BHF-UCL
Adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: GO_Central
cAMP-mediated signaling Source: BHF-UCL
Cell maturation Source: Ensembl
Cell surface receptor signaling pathway Source: InterPro
Cellular response to glucose stimulus Source: Ensembl
Cellular response to insulin stimulus Source: Ensembl
Determination of adult lifespan Source: Ensembl
Hormone metabolic process Source: Ensembl
Lactation Source: Ensembl
Multicellular organismal reproductive process Source: BHF-UCL
Positive regulation of cell population proliferation Source: BHF-UCL
Positive regulation of circadian sleep/wake cycle, non-REM sleep Source: Ensembl
Positive regulation of growth hormone secretion Source: BHF-UCL
Positive regulation of insulin-like growth factor receptor signaling pathway Source: BHF-UCL
Positive regulation of multicellular organism growth Source: BHF-UCL
Regulation of intracellular steroid hormone receptor signaling pathway Source: Ensembl
Regulation of protein metabolic process Source: Ensembl
Response to estrogen Source: BHF-UCL
Response to glucocorticoid Source: BHF-UCL
Response to insulin Source: BHF-UCL
Somatotropin secreting cell development Source: Ensembl
Water homeostasis Source: Ensembl

Cellular Location

Cell membrane

Involvement in disease

Growth hormone deficiency, isolated, 4 (IGHD4):
An autosomal recessive deficiency of growth hormone leading to early and severe growth failure and short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.

Topology

Extracellular: 23-132
Helical: 133-152
Cytoplasmic: 153-162
Helical: 163-181
Extracellular: 182-204
Helical: 205-227
Cytoplasmic: 228-240
Helical: 241-262
Extracellular: 263-280
Helical: 281-304
Cytoplasmic: 305-329
Helical: 330-348
Extracellular: 349-361
Helical: 362-381
Cytoplasmic: 382-423