cell division cycle 73
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The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found primarily in the nucleus of cells and is likely involved in regulating gene transcription, which is the first step in protein production. Parafibromin functions as a tumour suppressor, which means it keeps cells from growing and dividing (proliferating) too fast or in an uncontrolled way. When parafibromin is found outside the nucleus, it appears to be involved in the organisation of the cell's structural framework (the cytoskeleton).
Normal function
The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found primarily in the nucleus of cells and is likely involved in regulating gene transcription, which is the first step in protein production. Parafibromin functions as a tumour suppressor, which means it keeps cells from growing and dividing (proliferating) too fast or in an uncontrolled way. When parafibromin is found outside the nucleus, it appears to be involved in the organisation of the cell's structural framework (the cytoskeleton).
Conditions referring to this gene or chromosome
Other names
C1orf28
CDC73_HUMAN
cell division cycle protein 73 homolog
HRPT2
hyperparathyroidism 2 protein
hyrax
HYX
parafibromin
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Leitura adicional e referências
- cell division cycle 73; MedlinePlus, National Library of Medicine.
- Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceicao Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV. Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306. doi: 10.1111/j.1365-2265.2006.02460.x.
- 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.
- Cetani F, Pardi E, Marcocci C. Update on parathyroid carcinoma. J Endocrinol Invest. 2016 Jun;39(6):595-606. doi: 10.1007/s40618-016-0447-3. Epub 2016 Mar 21.
- 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.
- Fernandez-Ranvier GG, Khanafshar E, Tacha D, Wong M, Kebebew E, Duh QY, Clark OH. Defining a molecular phenotype for benign and malignant parathyroid tumors. Cancer. 2009 Jan 15;115(2):334-44. doi: 10.1002/cncr.24037.
- Figueiredo AA, Saramago A, Cavaco BM, Simoes-Pereira J, Leite V. Familial parathyroid tumours-comparison of clinical profiles between syndromes. J Endocrinol Invest. 2023 Sep;46(9):1799-1806. doi: 10.1007/s40618-023-02032-4. Epub 2023 Feb 13.
- Masi G, Barzon L, Iacobone M, Viel G, Porzionato A, Macchi V, De Caro R, Favia G, Palu G. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer. 2008 Dec;15(4):1115-26. doi: 10.1677/ERC-08-0066. Epub 2008 Aug 28.
- Newey PJ, Bowl MR, Cranston T, Thakker RV. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat. 2010 Mar;31(3):295-307. doi: 10.1002/humu.21188.
- Newey PJ, Bowl MR, Thakker RV. Parafibromin--functional insights. J Intern Med. 2009 Jul;266(1):84-98. doi: 10.1111/j.1365-2796.2009.02107.x.
- Serrano-Gonzalez M, Shay S, Austin J, Maceri DR, Pitukcheewanont P. A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature. J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1005-12. doi: 10.1515/jpem-2016-0109.
- Skefos CM, Waguespack SG, Perrier ND, Hu MI. CDC73-Related Disorders. 2008 Dec 31 [updated 2023 Sep 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK3789/
- Tora R, Welch J, Sun J, Agarwal SK, Bell DA, Merino M, Weinstein LS, Simonds WF, Jha S. Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome. J Clin Endocrinol Metab. 2023 Nov 17;108(12):3165-3177. doi: 10.1210/clinem/dgad368.
- Torresan F, Iacobone M. Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature. Int J Endocrinol. 2019 Dec 18;2019:1761030. doi: 10.1155/2019/1761030. eCollection 2019.
- van der Tuin K, Tops CMJ, Adank MA, Cobben JM, Hamdy NAT, Jongmans MC, Menko FH, van Nesselrooij BPM, Netea-Maier RT, Oosterwijk JC, Valk GD, Wolffenbuttel BHR, Hes FJ, Morreau H. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. J Clin Endocrinol Metab. 2017 Dec 1;102(12):4534-4540. doi: 10.1210/jc.2017-01249.
- Villablanca A, Calender A, Forsberg L, Hoog A, Cheng JD, Petillo D, Bauters C, Kahnoski K, Ebeling T, Salmela P, Richardson AL, Delbridge L, Meyrier A, Proye C, Carpten JD, Teh BT, Robinson BG, Larsson C. Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 2004 Mar;41(3):e32. doi: 10.1136/jmg.2003.012369. No abstract available.
- Wang PF, Tan MH, Zhang C, Morreau H, Teh BT. HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. Horm Metab Res. 2005 Jun;37(6):380-3. doi: 10.1055/s-2005-870150.
- Westin G. Molecular genetics and epigenetics of nonfamilial (sporadic) parathyroid tumours. J Intern Med. 2016 Dec;280(6):551-558. doi: 10.1111/joim.12458. Epub 2016 Apr 12.
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