MC2R
Function
Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).
Involvement in disease
Glucocorticoid deficiency 1
GCCD1
A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
Tissue Specificity
Melanocytes and corticoadrenal tissue.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
ACTHR, MC2R, Adrenocorticotropic hormone receptor, ACTH receptor, ACTH-R, Adrenocorticotropin receptor, Melanocortin receptor 2, MC2-R