Parafibromin (BSB-50), MMab

Summary and Explanation

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. Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid carcinomas.

The proposed role of Parafibromin as a tumor suppressor was supported by mutation screening in parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. None of these mutations were detected in normal controls, and all were predicted to cause deficient or impaired protein function. Sporadic parathyroid carcinomas frequently express Parafibromin antibody as mutations that are likely to be of pathogenetic importance. Certain patients with apparently sporadic parathyroid carcinoma carry germ-line mutations in Parafibromin and may have the HPT-JT syndrome or a phenotypic variant.