MC2 receptor ist ein Gen, das durch das Symbol MC2R kodiert wird. Im Allgemeinen auch bezeichnet als: Adrenocorticotropic hormone receptor; ACTH receptor; Adrenocorticotropin receptor; Melanocortin receptor 2; MC2-R; MC2R; ACTHR. MC2 receptor hat eine Masse von 33.93kDa, eine Aminosäurelänge von 297, und ist an Glucocorticoid deficiency 1 beteiligt.
Wir bieten 6 antikörper gegen MC2 receptor, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, ELISA and ICC/IF mit Proben abgeleitet von Human und Maus.
Gen- und Proteininformationen
UniProt Zusammenfassung
Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).
Entrez Zusammenfassung
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.
Gewebespezifität
Melanocytes and corticoadrenal tissue.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the G-protein coupled receptor 1 family.
