GENETIC ENCYCLOPEDIA
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gene: MRAP2

id112609
symbolMRAP2
organismHomo sapiens
full namemelanocortin 2 receptor accessory protein 2
summaryThis gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]
variant-disease

NM_138409.4(MRAP2):c.70G>T (p.Glu24Ter) AND Body mass index quantitative trait locus 18

GRCh37/hg19 6q14.2(chr6:84480837-84803980)x1 AND not provided

GRCh37/hg19 6q14.2-14.3(chr6:84364140-85044270)x3 AND See cases

GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3 AND not provided

GRCh37/hg19 6q14.2-14.3(chr6:84348873-85052572)x3 AND not provided

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