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]

Dec 31, 2008 · 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).

Dec 24, 2024 · 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.

Jan 20, 2009 · 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 ( 1 ...

May 23, 2018 · 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.

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.

Sep 21, 2023 · 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.

CDC73 gene variants cause hyperparathyroidism-jaw tumor syndrome by reducing the amount of functional parafibromin that is produced. Most of these variants cause the cell to produce a parafibromin protein that is abnormally short and does not function well.

Dec 21, 2023 · To find alternative ways to target Notch signals, we investigated cell division cycle 73 (Cdc73), which is a Notch cofactor and key component of the RNA polymerase-associated transcriptional machinery, an emerging target in T-ALL.