NT5M


Description

The NT5M (5',3'-nucleotidase, mitochondrial) is a protein-coding gene located on chromosome 17.

The NT5M gene encodes a mitochondrial enzyme, 5',3'-nucleotidase, mitochondrial, also known as 5'(3')-deoxyribonucleotidase, mitochondrial (mdN) or deoxy-5'-nucleotidase 2 (dNT-2). This enzyme resides in the mitochondrial matrix and dephosphorylates both the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The NT5M gene is located within the Smith–Magenis syndrome region on chromosome 17. The mature form of the protein is 196 amino acids long, resulting from the removal of a 32-amino acid mitochondrial targeting sequence during its import into the mitochondria. The enzyme likely exists as a dimer, with each monomer consisting of a large and small domain. The active site lies within a cleft between these domains and utilizes a magnesium ion coordinated by three ligands, a phosphate ion, and two water molecules.

NT5M is also known as dNT-2, dNT2, mdN.

Associated Diseases



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