Aliases for APTX Gene
External Ids for APTX Gene
Previous HGNC Symbols for APTX Gene
Previous GeneCards Identifiers for APTX Gene
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
GeneCards Summary for APTX Gene
APTX (Aprataxin) is a Protein Coding gene. Diseases associated with APTX include Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia and Aptx-Related Coenzyme Q10 Deficiency. Among its related pathways are DNA Damage. GO annotations related to this gene include chromatin binding and protein N-terminus binding. An important paralog of this gene is PNKP.
UniProtKB/Swiss-Prot for APTX Gene
DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567). Catalyzes the release of adenylate groups covalently linked to 5-phosphate termini, resulting in the production of 5-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5-linked adenosine (AppDNA) (By similarity).