基因名称(Gene Name)
MRAP C21orf61 FALP
蛋白名称
Melanocortin-2 receptor accessory protein (B27) (Fat cell-specific low molecular weight protein) (Fat tissue-specific low MW protein)
免疫原
Synthesized peptide derived from human protein . at AA range: 20-100
特异性
MRAP Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
melanocortin 2 receptor accessory protein(MRAP) Homo sapiens This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009],
功能
disease:Defects in MRAP are the cause of glucocorticoid deficiency type 2 (GCCD2) [MIM:607398]; also known as familial glucocorticoid deficiency type 2 (FGD2). GCCD2 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:Required for MC2R expression in certain cell types, suggesting that it is involved in the processing, trafficking or function of MC2R. May be involved in the intracellular trafficking pathways in adipocyte cells.,subcellular location:Concentrated at the perinuclear membrane region. Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm (By similarity). Localizes both to plasma membrane and endoplasmic reticulum.,subunit:Interacts with MC2R.,tissue specificity:Expres
