Recombinant Human ATP synthase F(0) complex subunit a (MT-ATP6)

中文名稱：

Recombinant Human ATP synthase F(0) complex subunit a (MT-ATP6)
品名簡稱：

Recombinant Human MT-ATP6 protein
貨號：

CSB-CF015070HU
說明書：

MSDS Datasheet
規格：

￥9720
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
生物活性：

Not Test
基因名：

MT-ATP6
Uniprot No.：

P00846
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length
來源：

in vitro E.coli expression system
分子量：

26.3 kDa
表達區域：

1-226aa
氨基酸序列

MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Basically, we can dispatch the products out in 3-7 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.
基因功能參考文獻：
1. we did not find somatic mutations in the sequence of the ATP6 and/or ND3 genes in postmenopausal Mexican-Mestizo women with breast cancer PMID: 29414393
2. Results identified a mutation in the mitochondrial ATP6 gene, G8969>A in a patient with IgA nephropathy which leads to replacing of a highly conserved serine residue at position 148 of the a-subunit of ATP synthase. Increasing the mutation load in cybrid cell lines was paralleled by the appearance of abnormal mitochondrial morphologies, diminished respiration and enhanced production of reactive oxygen species. PMID: 27812026
3. the MT-ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses. PMID: 29481804
4. Mitochondrial ATP synthase mutations, which accumulate during carcinogenesis process, may be significant for cancer cell escape from apoptosis. PMID: 28986220
5. Interaction between mitochondrially encoded ATP synthase 6 (p.MT-ATP6) subunit and an environmental exposure of the ATP synthase inhibitor tributyltin chloride might contribute to the etiology of striatal necrosis syndromes. PMID: 27129022
6. A novel frameshift mutation in the mitochondrial ATP6 gene was identified in a 4-year-old girl with ataxia, microcephaly, developmental delay and intellectual disability. PMID: 28412374
7. Three mutations in the MT-ATP6 gene associated to the mitochondrial cardiomyopathy. PMID: 28104394
8. ATP6 genetic polymorphisms associated with breast cancer in Mizoram mongloid population. PMID: 25896597
9. genetic variants not associated with aggressive prostate cancer in overweight or obese Mexicans PMID: 27187822
10. analysis of mitochondrial deletion and double mutations in the MT-ATP6 gene in Tunisian patients PMID: 26993169
11. Two synonymous substitutions (mt.8614T>C and mt.8994G>A) in the mt-ATP6 gene may be associated with childhood obesity; study provides first data about mitochondrial genome variations in a Turkish obese population and also the first in obese children PMID: 25541891
12. This study suggests that, in part, polymorphisms in the MT-ATP6 and MT-CYB genes may contribute to the unexpected fertilization failure. PMID: 24102627
13. T8821G mutation of the ATPase6 is associated with Leber's hereditary optic neuropathy. PMID: 26252090
14. Screening of the MT-ATP6 gene in a large collection of patients suspected of suffering different mitochondrial DNA (mtDNA) disorders. Biochemical, molecular-genetics and other analyses show three new pathologic mutations. PMID: 24986921
15. Here, we report on a neonate with the m.8993 T>G mutation and emphasize implications of mtDNA disorders on family planning decisions. PMID: 25009317
16. Five mutations able to change amino acid synthesis for the ATP synthase subunit 6 were associated with acute lymphoblastic leukemia in a Saudi Arabian cohort. PMID: 25556488
17. identified 8 changes in ATP6 gene in 36/50 examined breast cancer cell samples and 5 changes in ATP8 gene (10/50); most were homoplasmic changes of missense type; 4 changes (A8439C, G8858C, C9130G and T9119G) had not been described in the literature before PMID: 25110199
18. Lack of Atp6 (F0-a) alters the structure but not the content of ATP synthase. PMID: 25588698
19. Case Report: absence of mtDNA-encoded ATPase6 and ATPase8 genes in progressive external ophthalmoplegia patient clearly resulted in aberrant synthesis of ATP synthase. PMID: 20082143
20. Patients with irritable bowel syndrome with diarrhea have a higher incidence of MT-ATP 6 and 8 polymorphisms than healthy subjects, implying that the mtDNA polymorphism may play a role in irritable bowel syndrome with diarrhea. PMID: 23840124
21. Mutations in mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness. PMID: 24153443
22. study reports the second known family with a rare, maternally inherited missense m.8851T>C mutation in the mitochondrial MTATP6 gene; novel laboratory and muscle biopsy findings in the patient and a new clinical presentation in her mother were observed PMID: 23206802
23. Our findings reveal that an axonal Charcot Marie Tooth phenotype can be associated with mutations in the mitochondrial ATP6 gene PMID: 22971232
24. data demonstrated that mtDNA mutations within the ATPase6 gene are a frequent event in Chinese patients with osteosarcoma PMID: 22542792
25. A family members with m.8993T>C mutation in the mitochondrial MT-ATP6 gene have neuropathy ataxia and retinis pigmentosa/maternally inherited Leigh syndrome. PMID: 22819295
26. We have shown that m.9185T>C in MT-ATP6 causes Charcot-Marie-Tooth disease type 2 in 1.1% of genetically undefined cases. PMID: 22933740
27. study describes two families with adult-onset spinocerebellar ataxia due to mutations in MTATP6. PMID: 22577227
28. Several genes expressed at exceptionally high levels were identified associated with early oocyte development, TMEFF2, the Rho-GTPase-activating protein oligophrenin 1 (OPHN1) and the mitochondrial-encoded ATPase6 (ATP6). PMID: 22238370
29. genetic study of Leigh syndrome which showed a novel mutation at 8597T>C of the mitochondrial ATPase6 gene. PMID: 22348497
30. differences in the biosynthesis and remodeling of cardiolipin at the level of the inner mitochondrial transmembrane related to some mutations of the ATP6 gene. PMID: 21993659
31. Mitochondrial ATP6 point mutation associated with hereditary spastic paraplegia-like disorder. PMID: 20656066
32. To gain insight into the primary pathogenic mechanisms induced by mtDNA Atp6p T9176C, we have investigated the consequences of this mutation on the ATP synthase of yeast where Atp6p is also encoded by the mtDNA. PMID: 20056103
33. ATPase6 gene nucleotide alterations and elevated Reactive Oxygen Species levels occur in idiopathic cases of Primary ovarian insufficiency (POI) PMID: 20361200
34. The authors report a rare mutation, m. 9185 T>C that gives rise to a progressive, but episodic pattern of neurological impairment with partial recovery in Leigh syndrome. PMID: 20546952
35. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus PMID: 11925565
36. ATP6L is upregulated in resonse to antineoplastic agents as an anti-apoptotic defense PMID: 12133827
37. A mitochondrial DNA microdeletion removes the termination codon for MTATP6 and sets MTCO3 immediately in frame. PMID: 12915481
38. mitochondrial ATP6 can use GUG as a functional initiation codon PMID: 14697245
39. This work provides the first evidence that hyperpolarization of mitochondria may be a 'risk factor' for cells with a deep ATPase dysfunction, such as cells from patients with maternally-inherited Leigh syndrome PMID: 15228605
40. 25 amino acids are probably the human-specific adaptation residues of ATP6 PMID: 15965056
41. The spectrum of mutations causing Leigh syndrome and emphasize the role of MTATP6 gene mutations in pathogenesis of Leigh syndrome. PMID: 16217706
42. The data also demonstrate that mutations in either of these genes may cause early deafness, and they highlight the importance of genetic screening for recessive forms of dRTA independent of hearing status. PMID: 16611712
43. Hybrid ATP6 mRNAs, as the endogenous SOD2 mRNA, localize to the mitochondrial surface in human cells. PMID: 16751614
44. ATP synthase dimers and higher homo-oligomers were observed for the first time, and it was demonstrated that the mutant enzymes retain enough structural integrity to oligomerize PMID: 17121862
45. Reliability of preimplantation genetic diagnosis for T8993G mutation. PMID: 17342424
46. These results possibly highlight the different pathogenic mechanism generated by the two mutations at position 8993 of ATPase 6 subunit of the mitochondrial ATP synthase complex. PMID: 17568559
47. Point mutation occurred in mtDNA might be involved in pathogenesis of multiple sclerosis. PMID: 17619138
48. In a 3-generation ataxic family with the m.8993T-->C mutation of mtDNA, 1 had episodic ataxia & transient hemipareses, broadening the phenotype. No further cases were identified in an additional cohort of 191 patients with suspected EA. PMID: 18055910
49. mitochondrial 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 transcripts is significantly decreased in prostate tumor samples PMID: 18409190
50. This paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further. PMID: 18461509
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相關疾病：

Neuropathy, ataxia, and retinitis pigmentosa (NARP); Leber hereditary optic neuropathy (LHON); Leigh syndrome (LS); Mitochondrial infantile bilateral striatal necrosis (MIBSN); Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1); Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3); Ataxia and polyneuropathy, adult-onset (APAO); Cardiomyopathy, infantile hypertrophic (CMHI)
亞細胞定位：

Mitochondrion inner membrane; Multi-pass membrane protein.
蛋白家族：

ATPase A chain family
數據庫鏈接：

HGNC: 7414

OMIM: 256000

KEGG: hsa:4508

STRING: 9606.ENSP00000354632