PNKP : polynucleotide kinase 3'-phosphatase

Description

The PNKP (polynucleotide kinase 3'-phosphatase) is a protein-coding gene located on chromosome 19.

The PNKP gene provides instructions for making the polynucleotide kinase-phosphatase (PNKP) enzyme. This enzyme is essential for repairing broken DNA strands. It can help fix damage that affects a single DNA strand (single-strand breaks) or both strands (double-strand breaks). At the damage site, PNKP modifies the broken DNA ends to enable their rejoining.

PNKP plays a crucial role in DNA damage repair, participating in both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Its dual catalytic activities ensure DNA ends are suitable for extension and ligation by either removing 3'-phosphates or phosphorylating 5'-hydroxyl groups on the DNA backbone.

PNKP is also known as AOA4, CMT2B2, EIEE10, MCSZ, PNK.

Associated Diseases

• Early infantile epileptic encephalopathy
• Ataxia-oculomotor apraxia type 4
• Microcephaly, seizures, and developmental delay
• Ataxia-oculomotor apraxia 4
• Charcot-Marie-Tooth disease, axonal, type 2B2
• Ataxia with oculomotor apraxia