5"-Nucleotidase Domain Containing Protein 2 (NT5DC2)

Nucleotidases are hydrolytic enzymes that catalyze the hydrolysis of nucleotides into phosphates and nucleosides. NT5DC2 is a 520 amino acid protein belonging to the 5"""(3""")-deoxyribonucleotidase family. Existing as four isoforms produced by alternative splicing events, NT5DC2 is encoded by a gene mapping to human chromosome 3, 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.