CHCHD2 Antibody
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中文名稱：CHCHD2兔多克隆抗體
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貨號：CSB-PA005317GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：CHCHD2
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別名：16.7kD protein antibody; Aging Associated Gene 10 Protein antibody; Aging-associated gene 10 protein antibody; C7orf17 antibody; CHCH2_HUMAN antibody; CHCHD 2 antibody; CHCHD2 antibody; Coiled Coil Helix Coiled Coil Helix Domain Containing 2 antibody; Coiled coil helix coiled coil helix domain containing protein 2; mitochondrial antibody; Coiled-coil-helix-coiled-coil-helix domain-containing protein 2; mitochondrial antibody; HCV NS2 trans regulated protein antibody; HCV NS2 trans-regulated protein antibody; NS2TP antibody
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宿主：Rabbit
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反應種屬：Human,Mouse
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免疫原：Human CHCHD2
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IF,IHC,IP
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen).
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基因功能參考文獻：
- two genetic CHCHD10 disease variants, G66V and P80L, in the mitochondria exhibit faulty interactions with MNRR1 and COX, reducing respiration and increasing reactive oxygen species (ROS), and in the nucleus abrogating transcriptional repression of ORE-containing genes. PMID: 29540477
- It does not play a major role in pathogenesis of mitochondrial myopathy. PMID: 29519717
- our study suggests that mutations in the CHCHD2 gene are not likely to be a common cause of Parkinson's disease in Chinese Han population PMID: 27118487
- The results of this study suggest that CHCHD2 exonic variants are rare among Chinese patients with Parkinson's disease. PMID: 27269965
- Its mutation is not arelevant cause of Parkinson's disease in Italian population. PMID: 28108040
- CHCHD2 gene may not play a major role in our familial Chinese Han essential-tremor and Parkinson's disease patients. PMID: 27814991
- CHCHD2 is probably not involved in the etiopathogenesis of PD in a southern Spanish population. PMID: 27839904
- CHCHD2 mutations might not be the common cause of PD in South Italy. PMID: 27839905
- We examined the association of rs10043 and Pro2Leu variants in CHCHD2 with Parkinson's disease. Our study shows a twofold increase of the Pro2Leu variant in CHCHD2 in Parkinson's disease and meta-analysis of published studies suggests that this may be a risk factor for Parkinson's disease in Asian populations PMID: 27626775
- CHCHD2 mutations may be rare in Chinese familial essential tremor patients PMID: 27717833
- A family with Charcot-Marie-Tooth disease type 1A with an exaggerated phenotype harbors a Q112H mutation in MNRR1, located in a domain that is necessary for transcriptional activation by MNRR1 PMID: 27913209
- CHCHD2 primes neuroectodermal differentiation of human embryonic stem cell and Human induced pluripotent stem cell by binding and sequestering SMAD4 to the mitochondria, resulting in suppression of the activity of the TGFbeta signaling pathway. PMID: 27810911
- The results of this study suggest that genetic variants of CHCHD2 may not be a frequent cause of MSA or ALS in our Chinese population. PMID: 27538669
- Genetic variants of CHCHD2 do not play a major role in Taiwanese patients with Parkinson disease. PMID: 26725463
- Autosomal dominant Parkinson's disease can be caused by CHCHD2 mutations and show that the Pro2Leu variant in CHCHD2 may be a risk factor for sporadic PD in Chinese populations. PMID: 26705026
- CHCHD2 mutations may not account for PD in Canadian patients. PMID: 26639156
- CHCHD2 mutations might not be a common cause of PD in Chinese familial cases. PMID: 26343503
- identified a nonsense variant in exon 3 of CHCHD2 (NM_016139, c.376C > T, p.Gln126X; figure, B) in one German patient with Parkinson disease PMID: 26764027
- CHCHD2 influences mitochondrial and nuclear functions and contributes to the cancer phenotype associated with 7p11.2 amplification in non-small cell lung carcinoma . PMID: 25784717
- The presence of any rare variants in CHCHD2 were more common in Lewy body disease patients with Parkinson's disease compared to controls. PMID: 26561290
- The results of the present study indicated that CHCHD2 may be a novel biomarker for hepatocellular carcinoma and that CREB is important in the transcriptional activation of CHCHD2 by HCV NS2. PMID: 25625293
- findings establish CHCHD2, a previously uncharacterized small mitochondrial protein with no known homology to the Bcl-2 family, as one of the negative regulators of mitochondria-mediated apoptosis. PMID: 25476776
- MNRR1 (formerly CHCHD2) is imported to the mitochondrial intermembrane space by a Mia40-mediated pathway, where it binds to cytochrome c oxidase (COX). PMID: 25315652
- CHCHD2 missense mutations are associated with autosomal dominant Parkinson's disease. PMID: 25662902
- Silencing CHCHD2 reduces cellular oxygen consumption and disrupts the assembly and activity of Cytochrome C Oxidase. PMID: 19680543
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相關疾病：Parkinson disease 22 (PARK22)
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亞細胞定位：Nucleus. Mitochondrion. Mitochondrion intermembrane space.
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