Genomic coordinate (human 14:20,455,226 APEX1).
Cytoband (human 14q11.2 APEX1 white-color).
OMIM’ genes @ 14q11.2 = 25 genes.
Butterfly 🦋 chromosome-14 consists of 599 genes.
ClinVar = 37 APEX1 variants reported.
PANTHER Classification is (PTHR22748) DNA-(apurinic site) endonuclease.
Cytoband Structure: WCWCCBG2BG4B2G2
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Here I present: “APEX Nuclease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. APEX1
INTRODUCTION.
APEX Nuclease, also called apurinic endonuclease (APE), is a DNA repair enzyme having apurinic/apyrimidinic (AP) endonuclease, 3-prime,5-prime-exonuclease, DNA 3-prime repair diesterase, and DNA 3-prime-phosphatase activities. AP sites resulting from loss of bases are the most frequent lesions occurring in vivo in cellular DNA. AP sites are known to be produced by spontaneous hydrolysis, by various chemicals and radiations, and by DNA glycosylases that remove particular abnormal bases from DNA. The resulting abasic sites can block the progress of the DNA replication apparatus and cause mutations. These sites must be corrected to restore genetic integrity.
