Recombinant Human NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 (NDUFA1)

in vitro E.coli expression system

中文名稱：

人NDUFA1重組蛋白
貨號(hào)：

CSB-CF015618HU
規(guī)格：
來源：

in vitro E.coli expression system
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

基因名：

NDUFA1
Uniprot No.：

O15239
別名：

NDUFA1; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1; Complex I-MWFE; CI-MWFE; NADH-ubiquinone oxidoreductase MWFE subunit
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

full length protein
表達(dá)區(qū)域：

1-70
氨基酸序列

MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYHWSLMERDRRISGVDRYYVSKGLENID
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(biāo)簽：

N-terminal 10xHis-tagged
產(chǎn)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：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
儲(chǔ)存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)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 1-3 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.
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(xiàng)：

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

Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
基因功能參考文獻(xiàn)：
1. Results from a study on gene expression variability markers in early-stage human embryos shows that NDUF1A is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
2. The gene signature of OPA1, CTSA, NDUFA1, STK10 and PRDX1 was able to identify patients post-implant with a sensitivity of 91% and a specificity of 86% in discrimination between post-implant group and healthy controls. PMID: 27177495
3. Fanconi anemia complementation group A mutants show defective respiration through Complex I, diminished ATP production and metabolic sufferance with an increased AMP/ATP ratio. PMID: 23791750
4. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency PMID: 21596602
5. Mutations in the NDUFA1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders. PMID: 20153825
6. Species-specific and mutant MWFE proteins effect on the assembly of a functional mammalian mitochondrial complex I. PMID: 11937507
7. A family-based association study finds that the NDUFA1 gene is unlikely to harbor a major visual loss susceptibility locus for Leber hereditary optic neuropathy. PMID: 12084895
8. Oxidative stress and partial deficiencies of mitochondrial complex I are key factors in the pathogenesis of Parkinson's disease. (REVIEW) PMID: 15038604
9. Suppression of NDUFA1 expression could represent a key pathogenic mechanism in the development of basal cell carcinoma PMID: 15854127
10. Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay. PMID: 17262856
11. hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants PMID: 19185523
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相關(guān)疾病：

Mitochondrial complex I deficiency (MT-C1D)
亞細(xì)胞定位：

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.
蛋白家族：

Complex I NDUFA1 subunit family
組織特異性：

Primarily expressed in heart and skeletal muscle.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 7683

OMIM: 252010

KEGG: hsa:4694

STRING: 9606.ENSP00000360492

UniGene: Hs.534168