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APTX
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT/PARP1 and p53/TP53 (PubMed:14755728, PubMed:15380105, PubMed:15044383, PubMed:16777843). Interacts with NCL (PubMed:15044383, PubMed:16777843). Interacts (via FHA-like domain) with MDC1 (phosphorylated) (PubMed:20008512).
Molecular function
DNA-binding, Hydrolase
More Types Infomation
- Chicken Anti-APTX Polyclonal IgY (BRD-0050MZ)
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- Species Reactivity: Human, Mouse, Rat
- Type: Chicken antibody
- Application: WB
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- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, ICC, IF
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For Research Use Only. Not For Clinical Use.