Gene: CDC73

Alternate names for this Gene: C1orf28|FIHP|HPTJT|HRPT1|HRPT2|HYX

Gene Summary: This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.2

Description of this Gene: cell division cycle 73

Type of Gene: protein-coding

rs200922190 in CDC73 gene and Endometriosis PMID 28333195 2017 Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.

rs760591174 in CDC73 gene and Parathyroid Gland Adenocarcinoma PMID 12434154 2002 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

PMID 25444225 2014 Hyperparathyroidism-jaw tumor syndrome: Results of operative management.

PMID 14715834 2004 Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.