Parafibromin/HRPT2/CDC73 [2H1]

Parathyroid tumors are heterogeneous and diagnosis of the disease is often difficult. The Parafibromin protein may be important as a marker for diagnosing parathyroid carcinoma. Parafibromin is encoded by the endocrine tumor suppressor gene CDC73 (cell division cycle 73, Paf1/RNA polymerase II complex component), alternatively known as the HRPT2 (hyperparathyroidism-jaw tumor syndrome 2) gene. The human CDC73 gene, which maps to chromosome 1q25, is the human homolog of Saccharomyces cerevisiae Cdc73 and is responsible for the hyperparathyroidism with jaw tumor syndrome (HPT-JT). Parafibromin is part of the RNA polymerase II/Paf1 complex, which is crucial for histone modification. This Parafibromin complex binds to both the nonphosphorylated forms and the Ser 2 and Ser 5 phosphorylated forms of the RNA polymerase II large subunit.