GHRHR Antibody – Rabbit Polyclonal

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]

GHRHR: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion. Defects in GHRHR are a cause of growth hormone deficiency isolated type 1B (IGHD1B); also known as dwarfism of Sindh. IGHD1B is an autosomal recessive deficiency of GH which causes short stature. IGHD1B patients have low but detectable levels of GH. Belongs to the G-protein coupled receptor 2 family.

Protein type: Membrane protein, multi-pass; Cell development/differentiation; Membrane protein, integral; GPCR, family 2; Receptor, GPCR

Chromosomal Location of Human Ortholog: 7p14

Cellular Component: cell surface; cytoplasm; integral to membrane; nuclear inner membrane; nuclear matrix; nuclear outer membrane; plasma membrane; sarcolemma; secretory granule

Molecular Function: G-protein coupled receptor activity; growth factor binding; growth hormone-releasing hormone receptor activity; peptide hormone binding; protein binding

Biological Process: adenylate cyclase activation; cAMP-mediated signaling; cell maturation; cell surface receptor linked signal transduction; cellular response to insulin stimulus; determination of adult life span; G-protein signaling, adenylate cyclase activating pathway; growth hormone secretion; hormone metabolic process; lactation; positive regulation of cAMP biosynthetic process; positive regulation of cell proliferation; positive regulation of circadian sleep/wake cycle, non-REM sleep; positive regulation of growth hormone secretion; positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of multicellular organism growth; regulation of protein metabolic process; regulation of steroid hormone receptor signaling pathway; reproductive process in a multicellular organism; response to estrogen stimulus; response to glucocorticoid stimulus; response to insulin stimulus; somatotropin secreting cell development; water homeostasis

Disease: Isolated Growth Hormone Deficiency, Type Ib