MC2R

(redirected from melanocortin 2 receptor)

MC2R

A gene on chromosome 18p11.2 that encodes ACTH receptor, the activity of which is mediated by G protein-activated adenylate cyclase.

Molecular pathology
Genetic variations in MC2R cause glucocorticoid deficiency type 1.
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References in periodicals archive ?
Rainey, "H295R expression of melanocortin 2 receptor accessory protein results in ACTH responsiveness," Journal of Molecular Endocrinology, vol.
Finally, genetic polymorphisms of the melanocortin 2 receptor (MC2R) gene in patients with infantile spasms can predict responsiveness to adrenocorticotropic hormone (ACTH) therapy.