PNKP Rabbit mAb

This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay. Synonyma: PNK, AOA4, MCSZ, CMT2B2, EIEE10, PNKP