G protein subunit alpha 11
अंतिम अद्यतन 11 Apr 2023
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यह GNA11 gene provides instructions for making one component, the alpha (α) 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. Specifically, the protein produced from the GNA11 gene, called Gα11, is the alpha subunit for a G protein called G11.
Normal function
यह GNA11 gene provides instructions for making one component, the alpha (α) 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. Specifically, the protein produced from the GNA11 gene, called Gα11, is the alpha subunit for a G protein called G11.
In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions. The G11 protein plays many roles in cells. It works with another protein called the calcium-sensing receptor (CaSR) to affect processes that regulate calcium levels in the blood. CaSR proteins in kidney cells and cells of the parathyroid gland sense when a certain concentration of calcium in the blood is reached; the CaSR protein then stimulates the G11 subunits, including Gα11, to send signals that block processes that increase the amount of calcium in the blood. In particular, this signaling blocks the production and release of a hormone called parathyroid hormone. Parathyroid hormone enhances the release of calcium into the blood, so blocking this hormone prevents calcium release. In the kidneys, which filter fluid and waste products in the body and can reabsorb needed nutrients and release them back into the blood, G11 signaling blocks the reabsorption of calcium from the filtered fluids.
G11 signaling is also involved in the growth and division (proliferation) and self-destruction (apoptosis) of cells in tissues throughout the body, including those in the eyes, skin, heart, and brain.
Conditions referring to this gene or chromosome
Other names
FBH
FBH2
FHH2
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
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अधिक पठन और संदर्भ
- G protein subunit alpha 11; MedlinePlus, National Library of Medicine.
- Li D, Opas EE, Tuluc F, Metzger DL, Hou C, Hakonarson H, Levine MA. Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. J Clin Endocrinol Metab. 2014 Sep;99(9):E1774-83. doi: 10.1210/jc.2014-1029. Epub 2014 May 13.
- Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV. Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253.
- Shoushtari AN, Carvajal RD. GNAQ and GNA11 mutations in uveal melanoma. Melanoma Res. 2014 Dec;24(6):525-34. doi: 10.1097/CMR.0000000000000121.
- Van Raamsdonk CD, Griewank KG, Crosby MB, Garrido MC, Vemula S, Wiesner T, Obenauf AC, Wackernagel W, Green G, Bouvier N, Sozen MM, Baimukanova G, Roy R, Heguy A, Dolgalev I, Khanin R, Busam K, Speicher MR, O'Brien J, Bastian BC. Mutations in GNA11 in uveal melanoma. N Engl J Med. 2010 Dec 2;363(23):2191-9. doi: 10.1056/NEJMoa1000584. Epub 2010 Nov 17.
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