Searchable abstracts of presentations at key conferences in endocrinology

ea0016p538 | Obesity | ECE2008

Molecular insights in dysfunctions of the human melanocortin-4-receptor (MC4R) caused by mutations in the third transmembrane domain (TM3) and the second intracellular loop

Tarnow Patrick , Rediger Anne , Widhalm Kurt , Friedel Susann , Kleinau Gunnar , Bolz Hanno , Bettecken Thomas , Hinney Anke , Krause Gerd , Gruters Annette , Biebermann Heike

Mutations in the hypothalamic expressed MC4R gene are the most frequent cause of monogenetic obesity. This Gαs-Protein coupled receptor (GPCR) is activated by endogenous ligands α- and β-MSH and is inhibited by the only known endogenous inverse agonist and antagonist Agouti related peptide (AgRP). Naturally occurring mutations help to understand activation mechanisms of the human MC4R.We previously described a constitutively act...