Recombinant Human NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (NDUFV1)

中文名稱：

人NDUFV1重組蛋白
貨號：

CSB-YP015668HU
規格：
來源：

Yeast
其他：

中文名稱：

人NDUFV1重組蛋白
貨號：

CSB-EP015668HU
規格：
來源：

E.coli
其他：

中文名稱：

人NDUFV1重組蛋白
貨號：

CSB-EP015668HU-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：

人NDUFV1重組蛋白
貨號：

CSB-BP015668HU
規格：
來源：

Baculovirus
其他：

中文名稱：

人NDUFV1重組蛋白
貨號：

CSB-MP015668HU
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：

NDUFV1
Uniprot No.：

P49821
別名：

CI 51kD; CI-51kD; CI51KD; Complex I 51kD; Complex I-51kD; FLJ59059; mitochondrial; NADH dehydrogenase (ubiquinone) flavoprotein 1; NADH dehydrogenase [ubiquinone] flavoprotein 1; NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial; NADH dehydrogenase flavoprotein 1; NADH ubiquinone oxidoreductase 51 kDa subunit; NADH ubiquinone oxidoreductase; NADH ubiquinone oxidoreductase core subunit V1; NADH-ubiquinone oxidoreductase 51 kDa subunit; NDUFV 1; ndufv1; NDUV1_HUMAN; UQOR1
種屬：

Homo sapiens (Human)
蛋白長度：

Full length protein
表達區域：

21-464
氨基酸序列

SGDTTAPKKT SFGSLKDEDR IFTNLYGRHD WRLKGSLSRG DWYKTKEILL KGPDWILGEI KTSGLRGRGG AGFPTGLKWS FMNKPSDGRP KYLVVNADEG EPGTCKDREI LRHDPHKLLE GCLVGGRAMG ARAAYIYIRG EFYNEASNLQ VAIREAYEAG LIGKNACGSG YDFDVFVVRG AGAYICGEET ALIESIEGKQ GKPRLKPPFP ADVGVFGCPT TVANVETVAV SPTICRRGGT WFAGFGRERN SGTKLFNISG HVNHPCTVEE EMSVPLKELI EKHAGGVTGG WDNLLAVIPG GSSTPLIPKS VCETVLMDFD ALVQAQTGLG TAAVIVMDRS TDIVKAIARL IEFYKHESCG QCTPCREGVD WMNKVMARFV RGDARPAEID SLWEISKQIE GHTICALGDG AAWPVQGLIR HFRPELEERM QRFAQQHQAR QAAS
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：

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.
基因功能參考文獻：
1. Mutations in the ND6, NDUFV1 or ACAD9 genes are responsible for the mitochondrial complex I deficiency. PMID: 29348607
2. we have used a yeast model system to study the molecular consequences of 16 single amino acid substitutions, classified as pathogenic, in the NDUFV1 subunit of complex I PMID: 26345448
3. small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative developmental/neuropsychiatric susceptibility gene(s), GSTP1 and NDUFV1. PMID: 25432440
4. The results affirm that NDUFV1 mutations are causative of the phenotype in two siblings affected by a diffuse leukodystrophy. PMID: 23562761
5. observed 2 consanguinous siblings with early-onset encephalopathy, medulla, brainstem and mesencephalon lesions and death before 8 months of age, caused by a complex I deficiency; identified a missense mutation in the NDUFV1 gene; the mutation, p.Arg386His, affects a highly conserved residue PMID: 21696386
6. study describes clinical, radiological, biochemical and molecular data of 6 patients with Leigh syndrome with novel mutations in NDUFV1 and NDUFS2; 2 siblings were homozygous for previously undescribed R386C mutation in NDUFV1 PMID: 23266820
7. significant negative-correlation between left ventricular end-diastolic dimension and NDUFV1 production in dilated cardiomyopathy PMID: 20930427
8. Sp1 was abnormally expressed in schizophrenia and its mRNA alteration pattern paralleled that of NDUFV1 and NDUFV2 in schizophrenic patients. PMID: 17786189
9. Mutations in the NDUFV1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders. PMID: 20153825
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相關疾病：

Leigh syndrome (LS); Mitochondrial complex I deficiency (MT-C1D)
亞細胞定位：

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
蛋白家族：

Complex I 51 kDa subunit family
數據庫鏈接：

HGNC: 7716

OMIM: 161015

KEGG: hsa:4723

STRING: 9606.ENSP00000322450

UniGene: Hs.7744