| Gene Symbol | MC2R |
| Entrez Gene ID | 4158 |
| Full Name | melanocortin 2 receptor |
| Synonyms | ACTHR |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]. |
| Disorder MIM: | |
| Disorder Html: | Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3) |
User Manual