MC2 receptor est un gène codé par le symbole MC2R. Communément appelé aussi: Adrenocorticotropic hormone receptor; ACTH receptor; Adrenocorticotropin receptor; Melanocortin receptor 2; MC2-R; MC2R; ACTHR. MC2 receptor a une masse de 33.93kDa, une longueur d'acide aminé de 297, et est impliqué dans Glucocorticoid deficiency 1.
Nous proposons 6 des anticorps contre MC2 receptor, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, ELISA et ICC/IF avec des échantillons dérivés de Humain et Souris.
Informations sur les Gènes et les Protéines
Résumé UniProt
Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).
Résumé 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.
Spécificité tissulaire
Melanocytes and corticoadrenal tissue.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the G-protein coupled receptor 1 family.
Localisation cellulaire
Cell membrane.
