Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.

@article{Flck2002ClinicalGA,
  title={Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.},
  author={Christa E Fl{\"u}ck and John W. M. Martens and Felix A. Conte and Walter Miller},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2002},
  volume={87 9},
  pages={
          4318-23
        }
}
The ACTH receptor (MC2R) is expressed predominantly in the adrenal cortex, but is one of five G protein-coupled, seven-transmembrane melanocortin receptors (MCRs), all of which bind ACTH to some degree. Testing of MC2R activity is difficult because most cells express endogenous MCRs; hence, ACTH will elicit background activation of assayable reporter systems. Inactivating mutations of MC2R lead to hereditary unresponsiveness to ACTH, also known as familial glucocorticoid deficiency (FGD). These… CONTINUE READING
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