Literature associating EXO1 and Aicardi-Goutieres syndrome
Exonuclease 1; 5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch- containing DNA tracts directed by strand breaks located either 5' or 3' to the mismatch. Also exhibits endonuclease activity against 5'-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. Essential for male and female meiosis; Belongs to the XPG/RAD2 endonuclease family. EXO1 subfamily.
Synonyms: EXO1, EXO1p, hEXO1, E5RGY3, Q5T397 ...