GHRHR Human Protein

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