Disease-gene associations mined from literature

Literature associating APLF and Osgood-Schlatter's disease

APLF [ENSP00000307004]

Aprataxin and PNK-like factor; Nuclease involved in single-strand and double-strand DNA break repair . Recruited to sites of DNA damage through interaction with poly(ADP-ribose), a polymeric post- translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions . Displays apurinic- apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage . Together with PARP3, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) .

Synonyms:  APLF,  E9PRH6,  F8WET0,  Q8IW19,  E9PRH6p ...

Linkouts:  STRING  Pharos  UniProt  OMIM