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APTXaprataxin |
Known also as: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT; MGC1072; FLJ20157;
| NCBI Gene ID: | 54840 |
| NCBI Ensembl Id: | ENSG00000137074 |
| MIM Id: (from NCBI OMIM database) | 606350 |
| Species: | Homo sapiens |
| 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. 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 has not been determined. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S | Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. | Ann Neurol Jan. 1, 2004 |
| Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF | Aprataxin, a novel protein that protects against genotoxic stress. | Hum Mol Genet May 15, 2004 |
| Kijas AW, Harris JL, Harris JM, Lavin MF | Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. | J Biol Chem May 19, 2006 |
| Ahel I, Rass U, El-Khamisy SF, Katyal S, Clements PM, McKinnon PJ, Caldecott KW, West SC | The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. | Nature Oct. 12, 2006 |
| Rass U, Ahel I, West SC | Actions of aprataxin in multiple DNA repair pathways. | J Biol Chem March 1, 2007 |
Last modification of this entry: Oct. 6, 2010.
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