基因产物：多聚核苷酸激酶/磷酸酶。

蛋白功能：在DNA损伤的修复中起着关键作用。

相关疾病：伴眼球运动不能共济失调（AR）[1]；伴小头畸形、癫痫发作、发育迟缓（AR）[2]；早发性癫痫脑病[3]。 


参考文献

1. Bras, J., et al., Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.Am J Hum Genet, 2015. 96(3): p. 474-9.
2. Shen, J., et al., Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.Nat Genet, 2010. 42(3): p. 245-9.
3. Mastrangelo, M. and V. Leuzzi, Genes of early-onset epileptic encephalopathies: from genotype to phenotype.Pediatr Neurol, 2012. 46(1): p. 24-31.