Molecular weight (DA)
39kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 11-60
Specificity
APTX Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
aprataxin(APTX) Homo sapiens 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
disease:Defects in APTX are a cause of coenzyme Q10 deficiency [MIM:607426]. 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.,disease:Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]. AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.,domain:The C2H2-type zinc finger mediates DNA-binding.,domain:The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.,domain:The histidine triad, als
Protein name
Aprataxin (EC 3.-.-.-) (Forkhead-associated domain histidine triad-like protein) (FHA-HIT)
Human protein sequence Database
Q7Z2E3
Mouse protein sequence database
Q7TQC5
Rat protein sequence database
Q8K4H4
Cellular localization
Nucleus, nucleoplasm . Nucleus, nucleolus . Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage (PubMed:15380105). Colocalizes with MDC1 at sites of DNA double-strand breaks (PubMed:20008512). Interaction with NCL is required for nucleolar localization (PubMed:16777843). .; [Isoform 12]: Cytoplasm .
Tissue expression
Widely expressed; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely expressed; detected throughout the brain, in liver, kidney, skeletal muscle, fibroblasts, lymphocytes and pancreas (PubMed:15276230, PubMed:11586299, PubMed:11586300).
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