2008年12月31日 · The diagnosis of a CDC73-related disorder is established in a proband with a heterozygous germline CDC73 pathogenic (or likely pathogenic) variant identified by molecular genetic testing (see Table 1).

Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), also known as CDC73 and parafibromin, is a protein which in humans is encoded by the CDC73 gene. [5] [6] [7]

2024年12月24日 · CDC73 (Cell Division Cycle 73) is a Protein Coding gene. Diseases associated with CDC73 include Hyperparathyroidism 2 With Jaw Tumors and Parathyroid Carcinoma. Among its related pathways are Formation of HIV elongation complex in the absence of HIV Tat and Gene expression (Transcription).

The CDC73 gene (formerly known as HRPT2) 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.

2018年5月23日 · Here, we found that CDC73, which encodes the cell division cycle 73 and acts as a tumor suppressor, was unexpectedly up-regulated in several cancer types but down-regulated in a variety of senescent cells.

2009年1月20日 · Parafibromin (Cdc73) is encoded by the CDC73 (HRPT2) tumor suppressor gene, mutated in hyperparathyroidism-jaw tumor syndrome (HPT-JT) and sporadic parathyroid tumors. HPT-JT is an autosomal-dominant multiple neoplastic syndrome characterized by parathyroid tumors, ossifying fibromas of the mandible and maxilla, and renal cysts and tumors ( …

2023年9月21日 · Clinical characteristics: The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism occurs in a vast majority of affected individuals, with onset typically in late adolescence or early adulthood.

2017年12月1日 · Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case series.

The oncosuppressor CDC73 /HRPT2 is mutated in parathyroid tumors associated with the HPT-JT syndrome and in most sporadic parathyroid carcinomas. CDC73 is a member of the PAF1 complex repressing Polymerase II (Pol II) activity.

CDC73 (previously known as HRPT2) is a 17 exon, 133 kb gene that maps to 1q31.2 and encodes the protein parafibromin. 1 – 3 CDC73 functions as a genuine tumor suppressor gene that is involved in the regulation of p53 and also as a component of the human PAF1 complex, which controls RNA polymerase II–mediated transcription. 4 – 6 Pathogenic germl...