Symbol: Name: ID: |
APTX aprataxin GFS:5114 |
Gene name: | APTX |
Chromosome: | 9p13.3 |
Previous Symbols: | AXA1 |
Previous Names: | ataxia 1, early onset with hypoalbuminemia |
Aliases: | FLJ20157, AOA, AOA1, EAOH, EOAHA |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1913658 | Rat Genome Database ID: | RGD:628740 |
HGNC ID: | HGNC:15984 | RefSeq IDs: | NM_001195248 |
Entrez Gene ID: | 54840 | Ensembl Gene ID: | ENSG00000137074 |
VEGA IDs: | OTTHUMG00000019759 | UniProt ID: | Q7Z2E3 |
UCSC ID: | uc003zrs.2 | OMIM ID: | 606350 |
Pubmed: | PMID11586299 PMID 11586300 | ||
CCDS IDs: | CCDSCCDS6532.1 CCDS CCDS47956.1 |
Aprataxin is a protein that in humans is encoded by the 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].
Function: 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. 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. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.
Products for APTX gene
Catalog | Product Name | Application | Company |
GFS:E05114 | aprataxin; ELISA kit | ELISA | n/a |
GFS:A05114 | aprataxin; Anti | ANTIBODIES | n/a |
GFS:P05114 | aprataxin; Protien | Protien | n/a |