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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Vidare läsning och referenser
- cell division cycle 73; MedlinePlus, National Library of Medicine.
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- 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.
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- 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.
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Artikelhistorik
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23 Jan 2026 | Senaste versionen
1 Jan 2026 | Ursprungligen publicerad
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