Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc42 | Endocrine genetics | ECE2006

Linkage of a fourth gene for familial glucocorticoid deficiency to chromosome 13q

Metherell LA , Becker C , Ruschendorf F , Naville D , Begeot M , Nurnberg P , Huebner A , Savage MO , Clark AJL

Expression of the ACTH receptor (MC2R), a 7 transmembrane GPCR, has been difficult to achieve in cell lines that are not of adrenal origin. Heterologous expression of this gene in many cell lines (CHO, Hela, H295R, HEK293) produces a protein that is trapped in the ER, suggesting that an accessory factor(s) might be necessary to traffic MC2R through the cell. We recently identified such an accessory factor, MRAP that rescues MC2R expression in some, but not all, cell lines. Mut...