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:Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues.,
Cell membrane ; Single-pass membrane protein . Endoplasmic reticulum membrane ; Single-pass membrane protein . The formation of antiparallel homo- and heterodimers suggest that N- and C-terminus can both localize in the cytoplasmic and extracellular parts, depending on the context (PubMed:20371771). Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm. .
Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues.
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