Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q.

doi:10.1007/s004390051125

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Article

Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q.

Human genetics - 1 Nov 1999

Cody J D, Reveles X T, Hale D E, Lehman D, Coon H, Leach R J

Abstract excerpt

The melanocortin-4 receptor (MC4R) is a seven, transmembrane G-protein-coupled receptor whose ligand, alpha-melanocyte-stimulating hormone (alpha-MSH), is a post-translational derivative of pro-opiomelanocortin (POMC). The regulatory pathway, of which MC4R is a part, has become an area of intense interest because of its potential role in obesity. Three studies have identified individuals with dominantly inherited...

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