GNAS complex locus
Ultimo aggiornamento 26 Lug 2023
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L GNAS gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). Each G protein is composed of three proteins called the alpha, beta, and gamma subunits.
Normal function
L GNAS gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). Each G protein is composed of three proteins called the alpha, beta, and gamma subunits.
In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions by regulating the activity of hormones. The G protein made with the subunit produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of endocrine glands such as the thyroid, pituitary gland, ovaries and testes (gonads), and adrenal glands. Adenylate cyclase is also believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis). In this way, the enzyme helps prevent the body from producing bone tissue in the wrong place (ectopic bone).
Conditions referring to this gene or chromosome
Altri nomi
ADENYLATE CYCLASE STIMULATORY PROTEIN, ALPHA SUBUNIT
adenylate cyclase-stimulating G alpha protein
AHO
C20orf45
dJ309F20.1.1
dJ806M20.3.3
GNAS1
GNAS1_HUMAN
GNASXL
GPSA
Gs, ALPHA SUBUNIT
GSA
GSP
guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1
guanine nucleotide regulatory protein
MGC33735
NESP
NESP55
NEUROENDOCRINE SECRETORY PROTEIN 55
PHP1A
PHP1B
POH
SCG6
secretogranin VI
SgVI
STIMULATORY G PROTEIN
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Ulteriori letture e riferimenti
- GNAS complex locus; MedlinePlus, National Library of Medicine.
- Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet A. 2008 Jul 15;146A(14):1788-96. doi: 10.1002/ajmg.a.32346.
- Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res. 2005;63(2):65-74. doi: 10.1159/000083895. Epub 2005 Feb 9.
- Elli FM, deSanctis L, Ceoloni B, Barbieri AM, Bordogna P, Beck-Peccoz P, Spada A, Mantovani G. Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. Hum Mutat. 2013 Mar;34(3):411-6. doi: 10.1002/humu.22265. Epub 2013 Jan 18.
- Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM, Mendonca BB. Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab. 2003 May;88(5):2147-51. doi: 10.1210/jc.2002-021362.
- Plagge A, Kelsey G, Germain-Lee EL. Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. J Endocrinol. 2008 Feb;196(2):193-214. doi: 10.1677/JOE-07-0544.
- Regard JB, Malhotra D, Gvozdenovic-Jeremic J, Josey M, Chen M, Weinstein LS, Lu J, Shore EM, Kaplan FS, Yang Y. Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification. Nat Med. 2013 Nov;19(11):1505-12. doi: 10.1038/nm.3314. Epub 2013 Sep 29.
- Tabareau-Delalande F, Collin C, Gomez-Brouchet A, Decouvelaere AV, Bouvier C, Larousserie F, Marie B, Delfour C, Aubert S, Rosset P, de Muret A, Pages JC, de Pinieux G. Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions. Mod Pathol. 2013 Jul;26(7):911-21. doi: 10.1038/modpathol.2012.223. Epub 2013 Feb 1.
- Turan S, Bastepe M. The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene. Horm Res Paediatr. 2013;80(4):229-41. doi: 10.1159/000355384. Epub 2013 Oct 3.
- Wadhawan S, Dickins B, Nekrutenko A. Wheels within wheels: clues to the evolution of the Gnas and Gnal loci. Mol Biol Evol. 2008 Dec;25(12):2745-57. doi: 10.1093/molbev/msn229. Epub 2008 Oct 8.
- Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M. Minireview: GNAS: normal and abnormal functions. Endocrinology. 2004 Dec;145(12):5459-64. doi: 10.1210/en.2004-0865. Epub 2004 Aug 26.
- Weinstein LS. G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome. J Bone Miner Res. 2006 Dec;21 Suppl 2:P120-4. doi: 10.1359/jbmr.06s223.
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