Adrenocorticotropic Hormone Receptor (ACTHR)

MC2R; MC2-R; Melanocortin 2 Receptor; ACTH Receptor; Adrenocorticotropin receptor; Melanocortin receptor 2

SPN	T736
HGNC	6930
MGI	96928
PubMed	22357529
RGD	628649
UniProt	Q01718
Wiki	MC2R

The ACTH receptor is a type of melanocortin receptor (type 2), properly known as MC₂, which is specific for ACTH.the ACTHR gene is expressed in normal corporal skin, scalp tissue, compound nevus tissue, basal cell carcinoma tissue, and cultured melanocytes; the CYP11A1 gene is expressed in squamous cell carcinoma tissue, normal facial skin, normal corporal skin, cultured melanocytes, and basal cell carcinoma tissue; the CYP17 gene is expressed in normal facial skin, corporal skin, cultured melanocytes, squamous cell carcinoma cells, and basal cell carcinoma cells; the CYP21A2 gene is expressed in melanoma tissue, squamous cell carcinoma tissue, basal cell carcinoma tissue, normal facial skin, and cultured melanocytes.

Reference

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"Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2."
Nat. Genet. 37:166-170(2005) [PubMed] [Europe PMC] [Abstract]

"MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family."
Proc. Natl. Acad. Sci. U.S.A. 106:6146-6151(2009) [PubMed] [Europe PMC] [Abstract]

"Regulation of G protein-coupled receptor signaling: specific dominant-negative effects of melanocortin 2 receptor accessory protein 2."
Sci. Signal. 3:RA28-RA28(2010) [PubMed] [Europe PMC] [Abstract]

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Trends Endocrinol. Metab. 5:209-214(1994)

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Lancet 341:461-462(1993) [PubMed] [Europe PMC] [Abstract]

"Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene."
J. Clin. Invest. 92:2458-2461(1993) [PubMed] [Europe PMC] [Abstract]

"Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency."
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"Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH."
Clin. Endocrinol. (Oxf.) 53:389-392(2000) [PubMed] [Europe PMC] [Abstract]

"Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay."
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"Novel human pathological mutations. Gene symbol: MC2R. Disease: Glucocorticoid deficiency."
Hum. Genet. 127:112-112(2010) [PubMed] [Europe PMC] [Abstract]