產(chǎn)品中(zhōng)心
一(yī)抗(kàng)
共(gòng)濟失調性眼球運動功能(néng)喪(sāng)失相(xiāng)關蛋白AOA1抗(kàng)體
文字(zì)：[大(dà)][中(zhōng)][小]
2017-5-4 瀏覽次(cì)數(shù)：1693
英文名稱 Anti-AOA1/Aprataxin
中(zhōng)文名(míng)稱 共(gòng)濟(jì)失(shī)調(tiáo)性眼(yǎn)球運動功能喪失相關蛋白(bái)AOA1抗體
別 名(míng) 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 with hypoalbuminemia; AXA 1; AXA1; AXA1; EAOH; EAOH; EOAHA; EOAHA; FHA HIT; FHA HIT; FHA-HIT; FLJ20157; FLJ20157; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like protein; Forkhead-associated domain histidine triad-like protein; MGC1072; MGC1072.
濃(nóng) 度 1mg/1ml
規 格 0.2ml/200μg
抗體(tǐ)來源 Rabbit
克隆類型(xíng) polyclonal
交(jiāo)叉反(fǎn)應(yīng) Human, Mouse, Rat, Pig, Horse, Rabbit
產品(pǐn)類(lèi)型(xíng) 一(yī)抗(kàng)
研(yán)究領(lǐng)域 神經(jīng)生(shēng)物學(xué) 表(biǎo)觀遺傳學
蛋白分子量(liáng) predicted molecular weight: 41kDa
性(xìng) 狀 Lyophilized or Liquid
免 疫 原 KLH conjugated synthetic peptide derived from human AOA1/Aprataxin
亞 型 IgG
純(chún)化方法(fǎ) affinity purified by Protein A
儲(chǔ) 存 液(yè) Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4
產(chǎn)品應(yīng)用(yòng) 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(shí)蠟(là)切片需做抗原(yuán)修復(fù)）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
保存條件(jiàn) Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
產(chǎn)品介紹 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, 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 (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.
Database links : UniProtKB/Swiss-Prot: Q7Z2E3.2
中(zhōng)文名(míng)稱 共(gòng)濟(jì)失(shī)調(tiáo)性眼(yǎn)球運動功能喪失相關蛋白(bái)AOA1抗體
別 名(míng) 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 with hypoalbuminemia; AXA 1; AXA1; AXA1; EAOH; EAOH; EOAHA; EOAHA; FHA HIT; FHA HIT; FHA-HIT; FLJ20157; FLJ20157; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like protein; Forkhead-associated domain histidine triad-like protein; MGC1072; MGC1072.
詳細(xì)介紹：
濃(nóng) 度 1mg/1ml
規 格 0.2ml/200μg
抗體(tǐ)來源 Rabbit
克隆類型(xíng) polyclonal
交(jiāo)叉反(fǎn)應(yīng) Human, Mouse, Rat, Pig, Horse, Rabbit
產品(pǐn)類(lèi)型(xíng) 一(yī)抗(kàng)
研(yán)究領(lǐng)域 神經(jīng)生(shēng)物學(xué) 表(biǎo)觀遺傳學
蛋白分子量(liáng) predicted molecular weight: 41kDa
性(xìng) 狀 Lyophilized or Liquid
免 疫 原 KLH conjugated synthetic peptide derived from human AOA1/Aprataxin
亞 型 IgG
純(chún)化方法(fǎ) affinity purified by Protein A
儲(chǔ) 存 液(yè) Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4
產(chǎn)品應(yīng)用(yòng) 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(shí)蠟(là)切片需做抗原(yuán)修復(fù)）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
保存條件(jiàn) Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
相(xiāng)關資料：
產(chǎn)品介紹 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, 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 (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.
Database links : UniProtKB/Swiss-Prot: Q7Z2E3.2
