CDC73

(redirected from HRPT2)

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 ?
HRPT2 mutations have been identified in sporadic PC, but not in adenoma or hyperplasia.
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.
Primary hyperparathyroidism and jaw tumor syndrome: A novel mutation of the HRPT2 gene.
Parafibromin is a protein coded by the CDC73/ HRPT2 gene and consists of 531 amino acids.
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
HRPT2 gene alterations in ossifying fibroma of the jaws.
A rare genetic syndrome, hereditary hyperparathyroidism with jaw tumor syndrome, is correlated with mutations in the HRPT2 gene.
There is an association with the HRPT2 gene (1q25-q31), which is associated with hyperparathyroidism-jaw tumor syndrome (an autosomal dominant disorder).
The HRPT2 gene (for "hyperparathyroidism 2") is a putative tumor suppressor gene that was identified and has been mapped to 1q25-q31.
While the mutated gene is not identified in many cases, there are kindreds in which either MEN1 or HRPT2 have been identified.
Inactivation of the tumor suppressor gene HRPT2 can be identified in a large number of parathyroid carcinomas and therefore, germline HRPT2 gene mutations may reflect unrecognized syndromic patients.