MC2 receptor è un gene codificato dal simbolo MC2R. Comunemente indicato anche come: Adrenocorticotropic hormone receptor; ACTH receptor; Adrenocorticotropin receptor; Melanocortin receptor 2; MC2-R; MC2R; ACTHR. MC2 receptor ha una massa di 33.93kDa, una lunghezza di amminoacidi di 297, ed è implicato in Glucocorticoid deficiency 1.
Offriamo 6 anticorpi contro MC2 receptor, allevati nel Coniglio e Capra, che sono adatti per WB, ELISA e ICC/IF con campioni derivati da Umano e Topo.
Informazioni su geni e proteine
Riepilogo UniProt
Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).
Sommario di Entrez
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. Alternate transcript variants have been found for this gene.
Specificità del tessuto
Melanocytes and corticoadrenal tissue.
Coinvolgimento nella malattia
Glucocorticoid deficiency 1: A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
Somiglianze di sequenza
Belongs to the G-protein coupled receptor 1 family.
Posizione cellulare
Cell membrane.
