Entrez 79577 | Ensembl ENSG00000134371 | |
Aliases CDC73, C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX, cell division cycle 73 External IDs MGI: 2384876 HomoloGene: 11571 GeneCards: CDC73 |
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.
Contents
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.
Clinical significance
Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid carcinomas.
References
CDC73 Wikipedia(Text) CC BY-SA