Rabbit anti-Human Aprataxin Polyclonal Antibody | anti-APTX antibody

Aprataxin

Cat. Num. AAA395842

• Gene Names: APTX; AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
• Reactivity: Human
• Applications: Western Blot, ELISA
• Purity: Ammonium Sulfate Precipitation
• Synonyms: Aprataxin; Polyclonal Antibody; Forkhead-associated domain histidine triad-like protein; FHA-HIT; APTX; AXA1; anti-APTX antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Purity/Purification: Ammonium Sulfate Precipitation
• Form/Format: Provided as solution in phosphate buffered saline with 0.08% sodium azide
• Sequence Length: 356

• Applicable Applications for anti-APTX antibody: Western Blot (WB), ELISA (EIA)
• Immunogen: Synthetic peptide derived from the human aprataxin protein.
• Positive Control: Human lung tissue
• Preparation and Storage: Product should be stored at -20 degree C. Aliquot to avoid freeze/thaw cycles

Immunohistochemistry (IHC)

(Immunohistochemical staining of human lung tissue using Aprataxin antibody at 5 ug/ml)

Related Product Information for anti-APTX antibody

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.

Product Categories/Family for anti-APTX antibody

Polyclonal Antibody; Neurodegenerative

NCBI and Uniprot Product Information

• NCBI GI #: 305410829
• NCBI GeneID: 54840
• NCBI Accession #: NP_001182177.1
• NCBI GenBank Nucleotide #: NM_001195248.1
• UniProt Accession #: Q7Z2E3; Q0P662; Q5T781; Q5T782; Q5T784; Q6JV81; Q6JV82; Q6JV85; Q7Z2F3; A8MTN4; D3DRK9; D3DRL0
• Molecular Weight: 41 kDa
• NCBI Official Full Name: aprataxin isoform e
• NCBI Official Synonym Full Names: aprataxin
• NCBI Official Symbol: APTX
• NCBI Official Synonym Symbols: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
• NCBI Protein Information: aprataxin; forkhead-associated domain histidine triad-like protein
• UniProt Protein Name: Aprataxin
• Protein Family: Aprataxin
• UniProt Gene Name: APTX
• UniProt Synonym Gene Names: AXA1; FHA-HIT
• UniProt Entry Name: APTX_HUMAN

NCBI Description

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]

Uniprot Description

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