glial cells missing transcription factor 2
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The GCM2 gene provides instructions for making a protein that is primarily found in the parathyroid glands. These four glands are located in the neck and produce a hormone called parathyroid hormone that regulates the levels of calcium in the blood. The GCM2 protein is needed for the development of the parathyroid glands before birth, and it plays a role in the maintenance of these glands into adulthood.
Normal function
The GCM2 gene provides instructions for making a protein that is primarily found in the parathyroid glands. These four glands are located in the neck and produce a hormone called parathyroid hormone that regulates the levels of calcium in the blood. The GCM2 protein is needed for the development of the parathyroid glands before birth, and it plays a role in the maintenance of these glands into adulthood.
The GCM2 protein acts as a transcription factor, which means that it binds to specific regions of DNA and helps control the activity of genes. As a transcription factor, it is likely that the GCM2 protein helps produce parathyroid hormone.
Conditions referring to this gene or chromosome
Other names
GCMB
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Leitura adicional e referências
- glial cells missing transcription factor 2; MedlinePlus, National Library of Medicine.
- Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27.
- Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregossa L, Oppo A, Marcocci C. Whole exome sequencing in familial isolated primary hyperparathyroidism. J Endocrinol Invest. 2020 Feb;43(2):231-245. doi: 10.1007/s40618-019-01107-5. Epub 2019 Sep 5.
- English KA, Lines KE, Thakker RV. Genetics of hereditary forms of primary hyperparathyroidism. Hormones (Athens). 2024 Mar;23(1):3-14. doi: 10.1007/s42000-023-00508-9. Epub 2023 Dec 1.
- Garcia-Castano A, Madariaga L, Gomez-Conde S, Cordo CLR, Lopez-Iglesias M, Garcia-Fernandez Y, Martin A, Gonzalez P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martinez R, Saso L, Urrutia I, Velasco O, Castano L, Gaztambide S. Five patients with disorders of calcium metabolism presented with GCM2 gene variants. Sci Rep. 2021 Feb 3;11(1):2968. doi: 10.1038/s41598-021-82661-y.
- Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13.
- Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A. GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e2021-e2026. doi: 10.1210/clinem/dgab929.
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