5'(3')-deoxyribonucleotidase, mitochondrial (NT5M)

5'(3')-deoxyribonucleotidase, mitochondrial (NT5M) is an enzyme that localizes to the mitochondrial matrix and plays a crucial role in nucleotide metabolism by dephosphorylating the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. This activity helps regulate the balance of deoxynucleotide triphosphate (dNTP) pools within mitochondria, which is essential for proper DNA replication and repair. Alterations or deletions involving NT5M are implicated in disorders like Smith–Magenis syndrome. Its function is critical for maintaining appropriate nucleotide pools; dysregulation can contribute to genetic diseases involving mtDNA instability or depletion syndromes.

Other names

5',3'-nucleotidase, mitochondrialDeoxy-5'-nucleotidase 2 (dNT-2)dNT2mdN

Dephosphorylates uracil and thymine deoxyribonucleotide phosphates