Gene Symbol | MC2R |
Entrez Gene ID | 4158 |
Full Name | melanocortin 2 receptor |
Synonyms | ACTHR |
General protein information |
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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) |