Target:MC2-R
Fields:cAMP signaling pathway;Neuroactive ligand-receptor interaction;Aldosterone synthesis and secretion;Cortisol synthesis and secretion;Cushing syndrome
Gene Name:MC2R
Protein Name:Adrenocorticotropic hormone receptor
Human Gene Id:4158
Human Swiss Prot No:Q01718
Mouse Gene Id:17200
Mouse Swiss Prot No:Q64326
Immunogen:The antiserum was produced against synthesized peptide derived from human ACTHR. AA range:248-297
Specificity:MC2-R Polyclonal Antibody detects endogenous levels of MC2-R protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500-2000;IHC 1:50-300; ELISA 2000-20000
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:MC2R;ACTHR;Adrenocorticotropic hormone receptor;ACTH receptor;ACTH-R;Adrenocorticotropin receptor;Melanocortin receptor 2;MC2-R
Observed Band(KD):34kD
Background: 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. [provided by RefSeq, May 2014],
Function:disease:Defects in MC2R are the cause of glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]; 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.,function:Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase.,similarity:Belongs to the G-protein coupled receptor 1 family.,subunit:Interacts with FALP/MRAP.,tissue specificity:Melanocytes and corticoadrenal tissue.,
Subcellular Location:Cell membrane; Multi-pass membrane protein.
Expression:Melanocytes and corticoadrenal tissue.