Disease-gene associations mined from literature

Literature associating EXO1 and nemaline myopathy 3

EXO1 [ENSP00000355506]

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 ...

Linkouts:  STRING  Pharos  UniProt