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).

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).

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]

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.

2025年2月9日 · A novel long-range deletion spanning CDC73 and upper-stream genes discovered in a kindred of familial primary hyperparathyroidism. Cell-cell adhesion regulates Merlin/NF2 interaction with the PAF complex. The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors.

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 ( …

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.

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.

2023年12月21日 · Activated Notch signaling is highly prevalent in T-cell acute lymphoblastic leukemia (T-ALL), but pan-Notch inhibitors showed excessive toxicity in clinical trials. To find alternative ways to target Notch signals, we investigated cell division cycle 73 (Cdc73), which is a Notch cofactor and key com …

CDC73 is a 17 exon gene that encodes parafibromin, a 531-amino-acid nuclear protein that is a component of a complex of accessory factors that modulates the activity of RNA polymerase II and of a histone methyltransferase (SUV39H1) and hence regulates gene expression and cell proliferation—functioning as both a transcriptional activator and ...