| MC4R |
| LOCUS ID | 4160 | |||||||||||||
| GENE_SYMBOL | MC4R | |||||||||||||
| GENE NAME | melanocortin 4 recep | |||||||||||||
| SYNONYMNS | NA | |||||||||||||
| CHROMOSOME | 18 | |||||||||||||
| HOMOLOGENE ID | 4320 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. Here we investigated the association of POL1-nearby variant rs488846, MALT1-nearby variant rs2874116, MC4R-nearby variant rs1942872, PHLPP rs9958800 and DSEL-nearby variant rs9966483 single nucleotide polymorphisms (SNPs) in the 18q region, previously linked with DN in African-Americans, with T2DM in (North African) Tunisian subjects, followed by their association with DN, which was performed subsequent to the analysis of the association with T2DM. | 23727064 |
| Cardiovascular | 1. Iintact CNS MC4R signaling is necessary for leptin to exert its chronic antidiabetic, anorexic, and cardiovascular actions. | 25717164 |