NT5C2编码5'-核苷酸酶（一种水解酶），其通过主要作用于肌苷5'-一磷酸和其他嘌呤核苷酸而在细胞嘌呤代谢中起重要作用。NT5C2编码蛋白与其他核苷酸酶合作，可能在维持细胞内嘌呤/嘧啶核苷酸的恒定组成方面起关键作用。其相关途径包括NAD代谢和嘧啶代谢（KEGG）。当该基因突变导致过度激活，其与复发的T细胞急性淋巴细胞白血病中的化疗耐药性有关。与NT5C2相关的疾病包括痉挛性截瘫45型（常染色体隐性遗传）和淋巴细胞白血病。

NT5C2 (also CN-II) is a 5’ nucleotidase that catalyzes the hydrolysis of nucleotides. Activity of NT5C2 is important for the maintenance of nucleotide pools and the export of excess purine nucleotides out of the cell. NT5C2 functions as a dimer of dimers to dephosphorylate purine substrates including inosine monophosphate (IMP), xanthine monophosphate (XMP), and guanosine monophosphate (GMP), resulting in the clearance of purine nucleosides. Nucleotide analog chemotherapies that disrupt DNA synthesis, such as cytarabine and thiopurines, are also targets of dephosphorylation by NT5C2, ultimately leading to their inactivation. High expression of NT5C2 in patients with myelodysplastic syndromes and acute myeloid leukemia correlates with drug resistance and poor outcome. Activating NT5C2 mutations are found in patients with hematopoietic malignancies, including childhood and adult acute lymphoblastic leukemia (ALL) and B-lymphoblastic leukemia, predominantly after relapse to nucleotide analog chemotherapies.

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