The PNKP gene provides instructions for making the polynucleotide kinase-phosphatase (PNKP) enzyme. This enzyme is critical for repairing broken strands of DNA molecules. It can help fix damage that affects one DNA strand (single-strand breaks) or both strands (double-strand breaks). At the site of the damage, the PNKP enzyme modifies the broken ends of the DNA strands so that they can be joined back together.
Other Names
AOA4; bifunctional polynucleotide phosphatase/kinase; DNA 5'-kinase/3'-phosphatase; EIEE10; Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP); MCSZ; PNK
Related Genetics Topics
- Ataxia with oculomotor apraxia — MedlinePlus Genetics
- Microcephaly, seizures, and developmental delay — MedlinePlus Genetics
Identifiers
- NCBI Gene: 11284
- OMIM: 605610
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
