polynucleotide kinase 3'-phosphatase
עודכן לאחרונה 19 Apr 2023
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ה 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.
Normal function
ה 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.
Conditions referring to this gene or chromosome
Other names
AOA4
bifunctional polynucleotide phosphatase/kinase
DNA 5'-kinase/3'-phosphatase
EIEE10
Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP)
MCSZ
PNK
Related patient information and medicines
Patient information leaflet
סרטן כבד ראשוני
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Patient information leaflet
ניוון שרירים
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Patient information leaflet
סרטן הפה
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Patient information leaflet
סרטן האשכים
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Patient information leaflet
בדיקות תפקודי כבד
What are liver function tests used for. Liver function tests are aimed at giving a picture of the 'state' of your liver. They are a sensitive way of looking for liver strain or liver damage, as they often show this well before you get any symptoms or problems with your liver. Transferases (AST or SGOT and ALT or SGPT). Gamma GT. Creatine kinase..
Patient information leaflet
הפרעות אגירת גליקוגן
הפרעות אגירת גליקוגן are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Most are diagnosed in childhood. Symptoms include weakness,.
קריאה נוספת והפניות
- polynucleotide kinase 3'-phosphatase; MedlinePlus, National Library of Medicine.
- Aceytuno RD, Piett CG, Havali-Shahriari Z, Edwards RA, Rey M, Ye R, Javed F, Fang S, Mani R, Weinfeld M, Hammel M, Tainer JA, Schriemer DC, Lees-Miller SP, Glover JNM. Structural and functional characterization of the PNKP-XRCC4-LigIV DNA repair complex. Nucleic Acids Res. 2017 Jun 2;45(10):6238-6251. doi: 10.1093/nar/gkx275.
- Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet. 2015 Mar 5;96(3):474-9. doi: 10.1016/j.ajhg.2015.01.005. Epub 2015 Feb 26.
- Breslin C, Mani RS, Fanta M, Hoch N, Weinfeld M, Caldecott KW. The Rev1 interacting region (RIR) motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair. J Biol Chem. 2017 Sep 29;292(39):16024-16031. doi: 10.1074/jbc.M117.806638. Epub 2017 Aug 16.
- Dumitrache LC, McKinnon PJ. Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease. Mech Ageing Dev. 2017 Jan;161(Pt A):121-129. doi: 10.1016/j.mad.2016.04.009. Epub 2016 Apr 26.
- Poulton C, Oegema R, Heijsman D, Hoogeboom J, Schot R, Stroink H, Willemsen MA, Verheijen FW, van de Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics. 2013 Feb;14(1):43-51. doi: 10.1007/s10048-012-0351-8. Epub 2012 Dec 9.
- Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 2012 Aug;40(14):6608-19. doi: 10.1093/nar/gks318. Epub 2012 Apr 15.
- Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010 Mar;42(3):245-9. doi: 10.1038/ng.526. Epub 2010 Jan 31.
- Shimada M, Dumitrache LC, Russell HR, McKinnon PJ. Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability. EMBO J. 2015 Oct 1;34(19):2465-80. doi: 10.15252/embj.201591363. Epub 2015 Aug 19.
- Weinfeld M, Mani RS, Abdou I, Aceytuno RD, Glover JN. Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair. Trends Biochem Sci. 2011 May;36(5):262-71. doi: 10.1016/j.tibs.2011.01.006. Epub 2011 Feb 25.
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