CDC73
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
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]
External IDsOMIM: 607393; MGI: 2384876; HomoloGene: 11571; GeneCards: CDC73; OMA:CDC73 - orthologs
Function
Parafibromin, LEO1, PAF1, and CTR9 form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex.[8]
Clinical significance
Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT)[7] and parathyroid carcinomas.[9][10]