ACTH receptor

The melanocortin receptor 2 (short: MC2R, or alternatively: ACTH receptor, in short: ACTHR or Corticotropinrezeptor ) is expressed in the adrenal cortex and mediates the effects of ACTH. Is a G-protein coupled receptor from the family of melanocortin receptors.

Genetics

MC2R is encoded in humans on chromosome 18p11.2 and contains section 297 amino acids.

Mutations

Mutations of the MC2R lead to infrequent family cortisone deficiency type 1, which is resistant to ACTH.

Human Genome Organisation Adrenocorticotropic hormone
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