Aprataxin, Polyclonal Antibody

Forkhead-associated domain histidine triad-like protein; FHA-HIT; APTX; AXA1

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 9; NC_000009.11 (32972604..33001639, complement). Location: 9p13.3

Polyclonal

IgG

Rabbit

Antigen Immunoaffiinity Purification

Provided as solution in phosphate buffered saline with 0.08% sodium azide

Product should be stored at -20 degree C. Aliquot to avoid freeze/thaw cycles

Small volumes of anti-APTX antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. Protein is widely expressed. Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome, an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. Also a cause of coenzyme Q10 deficiency. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy. Coenzyme Q10 deficiency due to APTX mutations is typically associated with cerebellar ataxia.

Antigen Immunoaffinity Purified Polyclonal; Signal Transduction

Western Blot (WB), ELISA (EIA)

Immunohistochemical staining of normal human lung tissue using Aprataxin antibody at 10 ug/ml.

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APTX_HUMAN

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-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. Ref.12 Ref.14 Ref.16 Ref.17 Ref.18

Subunit structure: Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53. Interacts with NCL. Interacts (via FHA-like domain) with MDC1 (phosphorylated). Ref.12 Ref.13 Ref.14 Ref.15 Ref.20

Subcellular location: Nucleus › nucleoplasm. Nucleus › nucleolus. Note: Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage. Colocalizes with MDC1 at sites of DNA double-strand breaks. Interaction with NCL is required for nucleolar localization. Ref.1 Ref.12 Ref.13 Ref.14 Ref.15 Ref.20Isoform 12: Cytoplasm Ref.1 Ref.12 Ref.13 Ref.14 Ref.15 Ref.20.

Tissue specificity: Widely expressed. In brain, it is expressed in the posterior cortex, cerebellum, hippocampus and olfactory bulb. Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2. Ref.10 Ref.11 Ref.12

Domain: The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide

By similarity.The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.The HIT domain is required for enzymatic activity.The C2H2-type zinc finger mediates DNA-binding.

Involvement in disease: Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]: An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25

Sequence similarities: Contains 1 C2H2-type zinc finger.Contains 1 FHA-like domain.Contains 1 HIT domain.

Biophysicochemical propertiesKinetic parameters:KM=18 µM for AppppAKM=837.5 µM for AMP-NH2

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