" /> APEX1 wt Allele - CISMeF





Preferred Label : APEX1 wt Allele;

NCIt synonyms : HAP1 Gene; REF-1 Gene; APEX Gene; Apurinic/Apyrimidinic Exonuclease Gene; AP Lyase Gene; Human Apurinic Endonuclease 1 Gene; APX Gene; Apurinic Endonuclease Gene; Deoxyribonuclease (Apurinic or Apyrimidinic) Gene; APEX Nuclease (Multifunctional DNA Repair Enzyme) Gene; REF1 Gene; Redox Factor 1 Gene; DNA-(Apurinic or Apyrimidinic Site) Lyase Gene; APEX Nuclease (Multifunctional DNA Repair Enzyme) 1 wt Allele; Multifunctional DNA Repair Enzyme Gene; APE Gene; APEN Gene; AP Endonuclease Class I Gene; APE1;

NCIt definition : Human APEX1 wild -type allele is located within 14q11.2-q12 and is approximately 13 kb in length. This allele, which encodes DNA-(apurinic or apyrimidinic site) lyase protein, is involved in DNA repair and the maintenance of DNA integrity.;

NCIt note : APEX1 gene contains five exons spanning 2.64 kb; the first exon is untranslated. The 0.5 kb upstream DNA contains only a possible CCAAT box and no other regulatory sites or a TATA box. A potent activator of p53 protein, APE1 may protect against cell lethality and suppress mutations produced by spontaneous hydrolysis, by chemicals and radiation, or by DNA glycosylases that remove abnormal bases from DNA; abasic sites that can block DNA replication and cause mutations must be corrected to restore genetic integrity. A repressor of the PTH gene, APE binds to promoter negative Ca(2 )-response elements, which are also present in the APE1 gene.;

GenBank Accession Number : NM_001641;

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12/05/2024


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