MC4R
LOCUS ID4160
GENE_SYMBOLMC4R
GENE NAMEmelanocortin 4 receptor
SYNONYMNSNA
CHROMOSOME18
HOMOLOGENE ID4320
microRNAsNANA
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
Nephropathy1. 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
Cardiovascular1. Iintact CNS MC4R signaling is necessary for leptin to exert its chronic antidiabetic, anorexic, and cardiovascular actions.25717164