NT5C3 Polyclonal Antibody

catalytic activity:A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate.,disease:Defects in NT5C3 are the cause of P5N deficiency [MIM:266120]; also called hemolytic anemia due to P5N deficiency or hemolytic anemia due to UMPH1 deficiency. P5N deficiency is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stipplig and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties.,function:Can act both as nucleotidase and as phosphotransferase.,induction:Isoform 2 is induced by interferon alpha in Raji cells in association with lupus inclusions.,similarity:Belongs to the pyrimidine 5'-nucleotidase family.,subunit:Monomer.,tissue specificity:Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only in reticulocytes.,