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

Chromosomal Location of Human Ortholog: 7p14

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

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

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

Disease: Isolated Growth Hormone Deficiency, Type Ib