ACTHR Antibody – Rabbit

MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. [provided by RefSeq, Jul 2008]

MC2R: Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase. Defects in MC2R are the cause of glucocorticoid deficiency type 1 (GCCD1); also known as familial glucocorticoid deficiency type 1 (FGD1). GCCD1 is an autosomal recessive disorder due to congenital insensitivity or resistance to adrenocorticotropin (ACTH). It is characterized by progressive primary adrenal insufficiency, without mineralocorticoid deficiency. Belongs to the G-protein coupled receptor 1 family.

Protein type: Receptor, GPCR; Membrane protein, integral; Membrane protein, multi-pass; GPCR, family 1

Chromosomal Location of Human Ortholog: 18p11.2

Cellular Component: integral to plasma membrane; cytoplasm; plasma membrane

Molecular Function: protein binding; melanocortin receptor activity; adrenocorticotropin receptor activity

Biological Process: G-protein coupled receptor protein signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; neuropeptide signaling pathway; positive regulation of cAMP biosynthetic process; placenta development

Disease: Glucocorticoid Deficiency 1