MC2R wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MC2R wild-type allele is located in the vicinity of 18p11.21 and is approximately 34 kb in length. This allele, which encodes adrenocorticotropic hormone receptor protein, is involved in corticotrophin-mediated signaling. Mutations in the gene are associated with glucocorticoid deficiency, due to ACTH unresponsiveness (glucocorticoid deficiency 1).

**Synonyms:** - ACTHR - Corticotropin Receptor Gene - MC2 Receptor Gene - Melanocortin 2 Receptor (Adrenocorticotropic Hormone) Gene - Melanocortin 2 Receptor wt Allele