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Melanokortin 2 receptor (adrenokortikotropski hormon)
Identifikatori
Simboli	MC2R; ACTHR; MGC125798
Vanjski ID	OMIM: 607397 MGI: 96928 HomoloGene: 444 IUPHAR: MC2 GeneCards: MC2R Gene
Ontologija gena
Molekularna funkcija	• rodopsinu-slična receptorska aktivnost; • receptorska aktivnost; • adrenokortikotropska receptorska aktivnost;
Celularna komponenta	• integralno sa membranom plazme; • membrana;
Biološki proces	• prenos signala; • G-protein signalizacija, spregnuta sa cikličnim nukleotidnim drugim glasnikom;
Pregled RNK izražavanja
	podaci
Ortolozi

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ACTH receptor je tip melanokortin receptora (tip 2), takođe poznat kao MC₂, koji je specifičan za ACTH.^[1]

On je rasprostranjen u zona fasciculata ljudskog adrenalnog korteksa. ACTH vezivanje za receptor stimuliše produkciju kortizola. (U kontrastu s tim, produkcija aldosterona iz zona glomerulosa je stimulisana primarno angiotenzinom II.)

ACTH receptor koristi cAMP kao sekundarni glasnik.^[2]

Mutacije ovog receptora uzrokuju glukokortikoidnu deficijenciju tipa 1, u kojoj pacijenti imaju visoke ACTH nivoe u serumu, i niske nivoe kortizola.^[3]^[4]

Povezano

Melanokortin receptor

Reference

↑ 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. DOI:10.1530/eje.0.1440199. PMID 11248736.
↑ Elias LLK, Clark AJL (2000). „The expression of the ACTH receptor”. Brazilian Journal of Medical and Biological Research 33 (10): 1245–1248. DOI:10.1590/S0100-879X2000001000015. PMID 11004726.
↑ Clark AJL, McLoughlin L, Grossman A (October 1993). „Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor”. Lancet 341 (8843): 461–462. DOI:10.1016/0140-6736(93)90208-X. PMID 8094489.
↑ Tsigos C, Arai K, Hung W, Chrousos GP (November 1993). „Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene”. J. Clin. Invest. 92 (5): 2458–2461. DOI:10.1172/JCI116853. PMC 288430. PMID 8227361.

Literatura

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Tatro JB (1997). „Receptor biology of the melanocortins, a family of neuroimmunomodulatory peptides.”. Neuroimmunomodulation 3 (5): 259–84. DOI:10.1159/000097281. PMID 9218248.
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Clark AJ, McLoughlin L, Grossman A (1993). „Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor.”. Lancet 341 (8843): 461–2. DOI:10.1016/0140-6736(93)90208-X. PMID 8094489.
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. DOI:10.1172/JCI116853. PMC 288430. PMID 8227361.
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. DOI:10.1006/geno.1993.1448. PMID 8276410.
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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. DOI:10.1210/jc.81.4.1442. PMID 8636348.
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. DOI:10.1006/bbrc.1996.5911. PMID 9020063.
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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. DOI:10.1016/S0303-7207(97)04043-4. PMID 9175632.
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. DOI:10.1016/S0167-4889(97)00031-1. PMID 9194567.
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. DOI:10.1046/j.1365-2265.2000.01040.x. PMID 10971458.
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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. DOI:10.1210/me.2002-0099. PMID 12456795.
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. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
„Melanocortin Receptors: MC₂”. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Arhivirano iz originala na datum 2016-03-03.