| UniProt Protein Function: | 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 |
| UniProt Protein Details: | |
| NCBI Summary: | 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 Code: | Q8TCY5 |
| NCBI GenInfo Identifier: | 45827704 |
| NCBI Gene ID: | 56246 |
| NCBI Accession: | NP_996781.1 |
| UniProt Secondary Accession: | Q8TCY5,Q5EBR3, Q8TDB7, Q8WXC1, Q8WXC2 |
| UniProt Related Accession: | Q8TCY5 |
| Molecular Weight: | 19,136 Da |
| NCBI Full Name: | melanocortin-2 receptor accessory protein isoform beta |
| NCBI Synonym Full Names: | melanocortin 2 receptor accessory protein |
| NCBI Official Symbol: | MRAP |
| NCBI Official Synonym Symbols: | B27; FALP; FGD2; GCCD2; C21orf61 |
| NCBI Protein Information: | melanocortin-2 receptor accessory protein; fat tissue-specific low MW protein; fat cell-specific low molecular weight 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 |
| Protein Family: | Melanocortin-2 receptor accessory protein |
| UniProt Gene Name: | MRAP |
| UniProt Entry Name: | MRAP_HUMAN |
