| Modification Notes |
RPUSD3 (RNA pseudouridylate synthase domain containing 3), also known as FLJ34707, FLJ37268 or MGC29784, is a 343 amino acid protein member of the pseudouridine synthase rluA family. Three RPUSD3 isoforms exist due to alternative splicing, and the gene encoding RPUSD3 maps to chromosome three which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3. |