Tissue expression
Cell line expression
Protein structure
APTX
AprataxinAOA, AOA1, AXA1, EAOH, EOAHA, FLJ20157
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]
Top validated antibodies |
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| LSBio | Polyclonal |
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| Invitrogen Antibodies | Polyclonal |
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| St John's Laboratory | Polyclonal |
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| Novus Biologicals | 5 references | Polyclonal |
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| GeneTex | Polyclonal |
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