Recombinant Human NADH-ubiquinone oxidoreductase chain 6 (MT-ND6 MTND6 NADH6 ND6)

中文名稱：
貨號：

CSB-YP015082HU
規格：
來源：

Yeast
其他：

中文名稱：
貨號：

CSB-EP015082HU
規格：
來源：

E.coli
其他：

中文名稱：
貨號：

CSB-EP015082HU-B
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：
貨號：

CSB-BP015082HU
規格：
來源：

Baculovirus
其他：

中文名稱：
貨號：

CSB-MP015082HU
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

NU6M
Uniprot No.：

P03923
別名：

NADH-ubiquinone oxidoreductase chain 6; EC 7.1.1.2; NADH dehydrogenase subunit 6; MT-ND6 MTND6 NADH6 ND6
種屬：

Homo sapiens (Human)
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
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.
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：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

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

Please contact us to get it.

產品評價

靶點詳情

功能：

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I.
基因功能參考文獻：
1. Study identify a significant down-expression of MT-ND6 in men with Klinefelter syndrome. PMID: 29333085
2. The molecular diagnostics by the whole exome sequencing showed a novel de novo (c.1374-2A>C) mutation in the KRT10 gene responsible for the development of IWC (KRT10 defect was confirmed by immunofluorescent study). Concurrently, the m.14484T>C mutation in mitochondrial MTND6 gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother PMID: 28944608
3. This review focuses on the role of mitochondrial genes in causing LHON and therapeutics available for treating the disease. A systematic search has been adopted in various databases using the keywords "LHON," "mitochondria," "ND1," "ND4," "ND6," and "therapy" and the following review on mitochondrial genetics PMID: 29133631
4. Liver MT-ND6 transcriptional activity and protein expression were decreased in nonalcoholic steatohepatitis, suggesting that the expression of this mitochondrial gene may play an important role in the disease progression. PMID: 22879518
5. This study shows that m.14484T>C arose independently in a different mtDNA haplogroup and ethnic background in India, which may influence the clinical expression of the disease. PMID: 23674761
6. These data suggested that the ND6 T14502C variant may modulate the phenotypic manifestation of the G11778A mutation in these Chinese pedigrees. PMID: 20691156
7. the G14459A mutation is a candidate mutation for maternally inherited dystonia PMID: 20052369
8. novel mitochondrial DNA nucleotide transversion, C14482A (M64I) was found to cause Leber's hereditary optic neuropathy with visual recovery PMID: 12112086
9. mitochondrial ND6 may have a role in Leber's hereditary optic neuropathy PMID: 15922297
10. Free radicals-mediated damage was studied in transmitochondrial cells harboring T14487C mutation in the ND6 gene of mtDNA. PMID: 16337195
11. Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. PMID: 17452034
12. T14484C and T14502C in ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family. PMID: 18440284
13. Molecular analysis has led to identification of the known T14502C mutation in ND6 gene in Chinese families with Leber's hereditary optic neuropathy. PMID: 19732751
14. missense mutation 14487T>C resulted in severe encephalopathies ranging from infantile Leigh syndrome to adult-onset progressive myoclonic epilepsy with dystonia in a five-generation family PMID: 20019223
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相關疾病：

Leber hereditary optic neuropathy (LHON); Leber hereditary optic neuropathy with dystonia (LDYT); Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS); Mitochondrial complex I deficiency (MT-C1D)
亞細胞定位：

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

Complex I subunit 6 family
數據庫鏈接：

HGNC: 7462

OMIM: 252010

KEGG: hsa:4541

STRING: 9606.ENSP00000354665