Aliases for APLF Gene
External Ids for APLF Gene
Previous HGNC Symbols for APLF Gene
Previous GeneCards Identifiers for APLF Gene
C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]
GeneCards Summary for APLF Gene
APLF (Aprataxin And PNKP Like Factor) is a Protein Coding gene. Diseases associated with APLF include degenerative disc disease and junctional epidermolysis bullosa. GO annotations related to this gene include nucleotide binding and DNA-(apurinic or apyrimidinic site) lyase activity.
UniProtKB/Swiss-Prot for APLF Gene
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.