CDC73

(redirected from HPTJT)

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 ?
A linkage between hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is linked to a chromosomal mutation in HRPT2, and renal diseases was published in a previous study, where two families with HPT-JT syndrome were followed and found to have adult renal hamartomas and cystic kidney disease as prominent features; and this possibly represented a new phenotypic variant of the HPTJT syndrome.