aptx gene
Publications for APTX Gene. 1  Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. (PMID: 11586299) Date H. … Tsuji S. (Nat. 2  The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn- finger protein aprataxin. (PMID: 11586300) Moreira M.-C. Aprataxin removes AMP from DNA ends following abortive ligation attempts by DNA Ligase IV during non-homologous end joining, thereby permitting subsequent attempts at ligation. DNA strand breaks. Ataxia oculomotor apraxia-1 is a neurological disorder caused by mutations in the APTX gene that encodes aprataxin. The neurological disorder appears to be caused by the gradual accumulation of unrepaired DNA strand breaks resulting from abortive DNA ligation events. Entrez Gene Summary 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. 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. Aprataxin is a protein that in humans is encoded by the APTX gene. This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Aprataxin is a protein that in humans is encoded by the APTX gene. This gene encodes a member of the histidine triad superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants Domain: 1  The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide. 2  The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4. 3  The HIT domain is required for enzymatic activity. 4  The C2H2-type zinc finger mediates DNA-binding. 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. 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. Publications for APTX Gene. 1  Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. 2  The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn- finger protein aprataxin. 3  CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. Entrez Gene Summary 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.
Aprataxin is a Protein Coding gene.