CDC73

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CDC73

A gene on chromosome 1q25 that encodes a tumour suppressor involved in transcriptional and post-transcriptional control pathways, which is part of the PAF protein complex. CDC73 associates with the RNA polymerase II, subunit POLR2A, and a histone methyltransferase complex.

Molecular pathology
CDC73 mutations are associated with hyperparathyroidism (jaw tumour syndrome), familial isolated hyperparathyroidism and parathyroid carcinoma.
References in periodicals archive ?
The risk of developing PC is approximately 15% in patients with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant disorder characterized by the germline mutation in the hypoxanthine phosphoribosyltransferase 2 (HRPT2), which encodes protein parafibromin.
Loss of parafibromin has been shown to be a feature of carcinoma, in combination with galectin-3 overexpression, increased Ki-67 index, and expression of PGP 9.
71) Upon tyrosine dephosphorylation by SHP2, parafibromin stably interacts with [beta]-catenin, which activates Wnt target genes.
2016) Dephosphorylated parafibromin is a transcriptional coactivator of the Wnt/Hedgehog/ Notch pathways.
Parafibromin is a protein coded by the CDC73/ HRPT2 gene and consists of 531 amino acids.
We aimed to improve the differential diagnostic markers in parathyroid tumors by evaluating the use of parafibromin, Ki-67, galectin-3, and HBME-1.
Effects of parafibromin expression on the phenotypes and relevant mechanisms in the DLD-1 colon carcinoma cell line.
Parafibromin will usually show a strong nuclear reaction in adenomas, compared with an absent to remarkably decreased reaction in carcinomas.
3) HRPT2, which codes for the nuclear protein parafibromin, appears to contribute to the pathogenesis of parathyroid carcinoma.
The noteworthy or emerging markers mentioned in this review include S100, mammaglobin, vimentin, EMA, and balanced translocation t(12;15)(p13;q25) for mammary-analog secretory carcinoma; microphthalmia-associated transcription factor (MITF) and SOX10 for mucosal melanoma; diffusely positive p40 and p63 for basaloid squamous cell carcinoma; p63, Epstein-Barr virus-encoded small RNA (EBER), and latent membrane protein 1 (LMP-1) for nasopharyngeal carcinoma; loss of parafibromin, galectin3 overexpression, increased Ki-67 index, and expression of protein gene product 9.
Interestingly, parafibromin tends to be absent or only weakly expressed in parathyroid carcinoma but showed positivity in 100% of CPRCCs and was also expressed in 7% and 19% of CRCCs and PRCCs, respectively.
12,20) The gene encodes a protein named parafibromin for its relationship to parathyroid disease and fibro-osseous jaw lesions.