Gene: PNKP
Alternate names for this Gene: AOA4|CMT2B2|EIEE10|MCSZ|PNK
Gene Summary: 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.
Gene is located in Chromosome: 19
Location in Chromosome : 19q13.33
Description of this Gene: polynucleotide kinase 3'-phosphatase
Type of Gene: protein-coding
rs786203983 in
PNKP gene and
ATAXIA-OCULOMOTOR APRAXIA 4
PMID 25728773 2015 Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
rs587784365 in
PNKP gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
PMID 22508754 2012 Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
PMID 23224214 2013 Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.
PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID 20118933 2010 Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
PMID 25728773 2015 Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
rs267606956 in
PNKP gene and
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
PMID 20118933 2010 Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
PMID 27232581 2016 Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
rs786203983 in
PNKP gene and
Movement Disorders
PMID 7165045 1982 Interface between psychoanalysis and family therapy.
PMID 27232581 2016 Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
PMID 27165045 2017 PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.
PMID 24965255 2014 Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
PMID 23224214 2013 Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.
PMID 25728773 2015 Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
PMID 20118933 2010 Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
PMID 10446192 1999 Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage.