| Modification Notes |
MRAP (melanocortin 2 receptor accessory protein), also known as B27, C21orf61 or FALP, is a 172 amino acid protein that localizes to both the cell membrane and the cytoplasm. Expressed in testis, ovary, lymph node, thyroid and fat tissue, MRAP is involved in intracellular trafficking pathways in adipocyte cells and is required for the proper processing and function of MC2-R. Defects in the gene encoding MRAP are the cause of glucocorticoid deficiency type 2 (GCCD2), an autosomal recessive disorder that is characterized by progressive primary adrenal insufficiency due to congenital insensitivity or resistance to adrenocorticotropin. MRAP is expressed as four alternatively spliced isoforms that are encoded by a gene which maps to human chromosome 21. |