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
Related patient information and medicines
Patient information leaflet
العلاج الكيميائي
Chemotherapy and other treatments may aim to cure the cancer A cure is the aim in many cases. Some cancers can be cured with chemotherapy alone. Sometimes chemotherapy is used in addition to another main treatment. For example, you may have surgery to remove a tumour but you may also be given a course of chemotherapy after the surgery. This aims.
Patient information leaflet
الحمل المتعدد
In a multiple pregnancy, there is more than one baby growing in the womb (uterus) at the same time. Being pregnant with twins is th... When an egg is fertilised, it becomes a zygote. If it splits completely into two separate groups of cells very early in this division then identical twin zygotes are formed. Cell division continues until each.
Patient information leaflet
متلازمة كلاينفلتر
What is Klinefelter's syndrome (KS) In general, each cell in your body contains 46 chrom... Meiosis is cell division which produces egg and sperm cells (reproductive cells). Because of an error in cell division called nondisjunction, an egg or a sperm cell can have an extra copy of an X chromosome. This means that when it meets a 'normal' egg or.
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متلازمة بكاء القط
متلازمة بكاء القط is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Because of the head and face abnormalities, serious lung infection (pneumonia) is more common. Understanding chromosomes and cell division.
Patient information leaflet
ابيضاض الدم النقوي الحاد
ابيضاض الدم النقوي الحاد is where the bone marrow makes large numbers of abnormal immature white blood cells which are derived from a myeloid stem cell. What is acute myeloid leukaemia. Acute myeloid leukaemia (AML) is a condition where the bone marrow makes large numbers of abnormal immature white blood cells which are derived from a myeloid stem.
Patient information leaflet
فحص الجاليوم
A gallium scan uses a radioactive chemical to help create pictures which can show areas of possible infection, injury, inflammation or cancer. It does this by looking for areas where there is rapid cell division within the body. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary.
قراءة إضافية ومراجع
- cell division cycle 73; MedlinePlus, National Library of Medicine.
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- 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.
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تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
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