共济失调性眼球运动功能丧失相关蛋白AOA1抗体

共济失调性眼球运动功能丧失相关蛋白AOA1抗体

规格：1mg/1ml

英文名： Aprataxin

别名： AOA 1; AOA; AOA; AOA1; AOA1; Aprataxin; Aprataxin; Aprataxin homolog; APTX; APTX; APTX_HUMAN; Ataxia 1 early onset with hypoalbuminemia; Ataxia 1 early onset with hypoalbuminemia; Ataxia1 early onset

分子量： 41kDa

储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce

克隆类型：Polyclonal

亚型：IgG

纯化方法：affinity purified by Protein A

**原：KLH conjugated synthetic peptide derived from human Aprataxi

交叉反应：Human, Mouse, Rat, Horse, Rabbit, Sheep,

细胞定位：细胞核

共济失调性眼球运动功能丧失相关蛋白AOA1抗体产品介绍：background: Aprataxin is a nuclear protein, present in both the nucleoplasm and the nucleolus, which is a member of the histidine triad (HIT) superfamily. Aprataxin is involved in DNA single-strand break repair, mediating protein-protein interactions with molecules responding to DNA damage. Aprataxin contains three conserved domains: an N-terminal forkhead-associated (FHA) domain which mediates protein-protein interactions, a HIT domain that is similar to Hint, and a C-terminal zinc finger domain. Loss of function mutations in APTX, the gene encoding for Aprataxin, destabilize the Aprataxin protein and result in a rare neurological disorder known as ataxia-oculomotor apraxia, characterized by abnormal movements of the head and eyes. These mutations either target the HIT domain or truncate the protein N-terminal to a zinc finger. 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,共济失调性眼球运动功能丧失相关蛋白AOA1抗体 resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. Subunit: Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53. Interacts with NCL. Interacts (via FHA-like domain) with MDC1 (phosphorylated). Subcellular Location: Nucleus, nucleoplasm. Nucleus, nucleolus. 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. 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. DISEASE: Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome 共济失调性眼球运动功能丧失相关蛋白AOA1抗体(AOA) [MIM:208920]. AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. Defects in APTX are a cause of coenzyme Q10 deficiency (COQ10D) [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. Similarity: Contains 1 C2H2-type zinc finger. Contains 1 FHA-like domain. Contains 1 HIT domain. Gene ID: 54840 Database links: Entrez Gene: 54840 Human Omim: 606350 Human SwissProt: Q7Z2E3 Human Unigene: 20158 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

共济失调性眼球运动功能丧失相关蛋白AOA1抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.

研究领域：

储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

来源： Rabbit

外观： Lyophilized or Liquid

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