MC2R

(redirected from ACTH receptor)
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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.
References in periodicals archive ?
It has been suggested that the ACTH receptor gene could provide the link to explain the association of the three main features of this syndrome, since there is evidence that ACTH has some neuropathic effects.
In another approach to block adrenocorticotropic hormone (ACTH) and pituitary adenylate cyclase-activating protein (PACAP) receptors, we quantified protein levels of GH in the rat GH3 pituitary tumor cell line (ATCC) after treatment with 5 or 10 [micro]L ACTH receptor antibody (Santa Cruz Biotechnology, Santa Cruz, CA) at a concentration of 0.
ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH.
The previous fellow, Robert Lefkowitz, who is a big professor at Duke now, a terrific guy, had worked on this way of measuring ACTH receptors.
Hypersecretion of adrenal without ACTH receptors was suspected in the tumor adrenal cells.