Melanocortin-2 receptor
| Melanocortin-2 receptor | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 297 amino acids | |
| Secondary to quaternary structure | multipass receptor | |
| Identifier | ||
| Gene name | MC2R | |
| External IDs | ||
The melanocortin receptor 2 (short: MC2R , or alternatively: ACTH receptor , short: ACTHR or corticotropin receptor ) is expressed in the adrenal cortex and mediates the effects of ACTH there . It is a G-protein coupled receptor from the family of melanocortin receptors .
genetics
MC2R is encoded on chromosome segment 18p11.2 in humans and contains 297 amino acids .
Mutations
Mutations in the MC2R lead to a rare familial type 1 cortisone deficiency that is resistant to ACTH.