BC062721
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
12,338 Da
NCBI Official Full Name
Homo sapiens melanocortin 2 receptor accessory protein, mRNA
NCBI Official Synonym Full Names
melanocortin 2 receptor accessory protein
NCBI Official Synonym Symbols
B27; FALP; FGD2; GCCD2; C21orf61 [Similar Products]
NCBI Protein Information
melanocortin-2 receptor accessory protein
UniProt Protein Name
Melanocortin-2 receptor accessory protein
UniProt Synonym Protein Names
B27; Fat cell-specific low molecular weight protein; Fat tissue-specific low MW protein
UniProt Synonym Gene Names
UniProt Entry Name
MRAP_HUMAN
NCBI Summary for MRAP
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]
UniProt Comments for MRAP
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; plasma membrane
Molecular Function: adrenocorticotropin hormone receptor binding; protein binding; type 3 melanocortin receptor binding; type 4 melanocortin receptor binding; type 5 melanocortin receptor binding
Biological Process: positive regulation of cAMP biosynthetic process
Disease: Glucocorticoid Deficiency 2
Research Articles on MRAP
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Diseases associated with MRAP cdna clone
Organs/Tissues associated with MRAP cdna clone
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