Disease-gene associations mined from literature

Literature associating PNKP and autosomal dominant cerebellar ataxia

PNKP [ENSP00000323511]

Bifunctional polynucleotide phosphatase/kinase; Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone; HAD Asp-based non-protein phosphatases

Synonyms:  PNKP,  M0QX49,  M0QYH2,  M0QYI1,  M0R000 ...

Linkouts:  STRING  Pharos  UniProt  OMIM