ACTH receptor
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| Melanocortin 2 receptor (adrenocorticotropic hormone)
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| Identifiers | ||||||||||||||||||||||
| Symbol(s) | MC2R; ACTHR; MGC125798 | |||||||||||||||||||||
| External IDs | OMIM: 607397 MGI: 96928 Homologene: 444 | |||||||||||||||||||||
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| RNA expression pattern | ||||||||||||||||||||||
| Orthologs | ||||||||||||||||||||||
| Human | Mouse | Entrez | 4158 | 17200 | Ensembl | ENSG00000185231 | ENSMUSG00000045569 | Uniprot | Q01718 | Q544P9 | Refseq | NM_000529 (mRNA) NP_000520 (protein) | NM_008560 (mRNA) NP_032586 (protein) | Location | Chr 18: 13.87 - 13.91 Mb | Chr 18: 68.53 - 68.55 Mb | ||||||
| Pubmed search | [1] | [2] | ||||||||||||||||||||
The ACTH receptor is a type of melanocortin receptor (type 2) which is specific for ACTH.[1]
It is found in the zona fasciculata of the adrenal cortex and stimulates production of cortisol. (By contrast, aldosterone production from the zona glomerulosa is stimulated primarily by angiotensin II.)
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See also
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References Edit
- ↑ Beuschlein F, Fassnacht M, Klink A, Allolio B, Reincke M (2001). ACTH-receptor expression, regulation and role in adrenocortial tumor formation. Eur. J. Endocrinol. 144 (3): 199–206.
Further readingEdit
- Cone RD, Mountjoy KG, Robbins LS, et al. (1993). Cloning and functional characterization of a family of receptors for the melanotropic peptides.. Ann. N. Y. Acad. Sci. 680: 342-63.
- Allolio B, Reincke M (1997). Adrenocorticotropin receptor and adrenal disorders.. Horm. Res. 47 (4-6): 273-8.
- Tatro JB (1997). Receptor biology of the melanocortins, a family of neuroimmunomodulatory peptides.. Neuroimmunomodulation 3 (5): 259-84.
- Mountjoy KG, Robbins LS, Mortrud MT, Cone RD (1992). The cloning of a family of genes that encode the melanocortin receptors.. Science 257 (5074): 1248-51.
- Clark AJ, McLoughlin L, Grossman A (1993). Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor.. Lancet 341 (8843): 461-2.
- Tsigos C, Arai K, Hung W, Chrousos GP (1993). Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.. J. Clin. Invest. 92 (5): 2458-61.
- Gantz I, Tashiro T, Barcroft C, et al. (1994). Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ hybridization.. Genomics 18 (1): 166-7.
- Gantz I, Konda Y, Tashiro T, et al. (1993). Molecular cloning of a novel melanocortin receptor.. J. Biol. Chem. 268 (11): 8246-50.
- Naville D, Barjhoux L, Jaillard C, et al. (1996). Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.. J. Clin. Endocrinol. Metab. 81 (4): 1442-8.
- Naville D, Jaillard C, Barjhoux L, et al. (1997). Genomic structure and promoter characterization of the human ACTH receptor gene.. Biochem. Biophys. Res. Commun. 230 (1): 7-12.
- Yang YK, Ollmann MM, Wilson BD, et al. (1997). Effects of recombinant agouti-signaling protein on melanocortin action.. Mol. Endocrinol. 11 (3): 274-80.
- Naville D, Barjhoux L, Jaillard C, et al. (1997). Stable expression of normal and mutant human ACTH receptor: study of ACTH binding and coupling to adenylate cyclase.. Mol. Cell. Endocrinol. 129 (1): 83-90.
- Penhoat A, Naville D, Jaillard C, et al. (1997). Presence of multiple functional polyadenylation signals in the 3'-untranslated region of human corticotropin receptor cDNA.. Biochim. Biophys. Acta 1356 (3): 249-52.
- Ishii T, Ogata T, Sasaki G, et al. (2000). Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.. Clin. Endocrinol. (Oxf) 53 (3): 389-92.
- Flück CE, Martens JW, Conte FA, Miller WL (2002). Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.. J. Clin. Endocrinol. Metab. 87 (9): 4318-23.
- Swords FM, Baig A, Malchoff DM, et al. (2003). Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity.. Mol. Endocrinol. 16 (12): 2746-53.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903.
See alsoEdit
External linksEdit
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