Endocrine Abstracts

The melanocortin-2-receptor accessory protein (MRAP) is a type I integral transmembrane protein required for the functional expression of the melanocortin-2-receptor (MC2R).Here we have investigated the expression and biochemical properties of mouse MRAP. Initially, mouse MRAP and MC2R tissue expression were determined by RT-PCR, being only present in the adrenal gland and fat tissue. Then, by in situ hybridisation studies using a full-length MRAP...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease due in ∼25% of cases to defects in the ACTH receptor (melcanocortin 2 receptor -MC2R). Slow progress in characterization of these mutations has been made in view of the difficulty in establishing a functional heterologous cell transfection system for the MC2R, and the best available models relate to the mouse Y6/OS3 cell lines. However we have shown previously that the melanocortin 2 receptor ...