Recombinant Human Mimitin, mitochondrial (NDUFAF2)

Code CSB-YP836643HU
MSDS
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Source Yeast
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Code CSB-EP836643HU
MSDS
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Source E.coli
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Code CSB-EP836643HU-B
MSDS
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Source E.coli
Conjugate 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.
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Code CSB-BP836643HU
MSDS
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Source Baculovirus
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Code CSB-MP836643HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
NDUFAF2
Uniprot No.
Alternative Names
B17.2 like; B17.2-like; B17.2L; FLJ22398; MIMIT_HUMAN; Mimitin; Mimitin mitochondrial ; mitochondrial; MMTN; Myc induced mitochondrial protein; Myc-induced mitochondrial protein; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 2; NADH dehydrogenase (ubiquinone) complex I; assembly factor 2; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2; NDUFA12 like; NDUFA12 like protein ; NDUFA12-like protein; NDUFA12L; NDUFAF2; OTTHUMP00000161882; OTTHUMP00000221703
Species
Homo sapiens (Human)
Expression Region
-
Protein Length
Cytoplasmic domain
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

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Target Background

Function
Acts as a molecular chaperone for mitochondrial complex I assembly. 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.
Gene References into Functions
  1. One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr]. PMID: 27344355
  2. Mimitin and 14-3-3 protein zeta/delta are potential markers of paclitaxel resistance and prognostic factors in ovarian cancer. PMID: 26033570
  3. Within the clinical spectrum of Leigh disease, patients with mutations in NDUFAF2 present with a distinct clinical pattern with predominantly brainstem involvement on MRI PMID: 20571988
  4. the novel gene mimitin is a direct transcriptional target of c-Myc, and is involved in Myc-dependent cell proliferation in esophageal squamous cell carcinoma cells PMID: 15774466
  5. B17.2L occurred in a 830 kDa subcomplex specifically in patients with mutations in subunits NDUFV1 and NDUFS4 PMID: 17383918
  6. the homozygous substitution in NDUFAF2 is the disease-causing mutation, which results in a complex I deficiency in the fibroblasts PMID: 19384974

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Involvement in disease
Mitochondrial complex I deficiency (MT-C1D); Leigh syndrome (LS)
Subcellular Location
Mitochondrion.
Protein Families
Complex I NDUFA12 subunit family
Tissue Specificity
Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.
Database Links

HGNC: 28086

OMIM: 252010

KEGG: hsa:91942

STRING: 9606.ENSP00000296597

UniGene: Hs.591757

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