MRAP Antibody – Rabbit Polyclonal

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]

MRAP: 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. Defects in MRAP are the cause of glucocorticoid deficiency type 2 (GCCD2); 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. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 21q22.1

Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; plasma membrane; integral to membrane

Molecular Function: type 5 melanocortin receptor binding; type 3 melanocortin receptor binding; protein binding; type 4 melanocortin receptor binding; adrenocorticotropin hormone receptor binding

Biological Process: positive regulation of cAMP biosynthetic process; brown fat cell differentiation

Disease: Glucocorticoid Deficiency 2