Recombinant Human Optic atrophy 3 protein (OPA3)

Code CSB-YP880985HU
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Source Yeast
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Code CSB-EP880985HU
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Source E.coli
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Code CSB-EP880985HU-B
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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-BP880985HU
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Source Baculovirus
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Code CSB-MP880985HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
OPA3
Uniprot No.
Alternative Names
OPA3; Optic atrophy 3 protein
Species
Homo sapiens (Human)
Expression Region
1-179
Target Protein Sequence
MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH WVEMRTKMRI MGFRGTVIKP LNEEAAAELG AELLGEATIF IVGGGCLVLE YWRHQAQQRH KEEEQRAAWN ALRDEVGHLA LALEALQAQV QAAPPQGALE ELRTELQEVR AQLCNPGRSA SHAVPASKK
Protein Length
full length protein
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.

Customer Reviews and Q&A

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Target Background

Function
May play some role in mitochondrial processes.
Gene References into Functions
  1. Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy. PMID: 25205859
  2. Report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of ADOA patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant. PMID: 24136862
  3. A novel missense mutation identifies OPA3 as the cause of a complex neurological disorder with marked lower limb dystonia. PMID: 23700088
  4. OPA1 mutations are the most common genetic defects identified in patients with suspected Autosomal-dominant optic atrophy (DOA), whereas OPA3 mutations are very rare in isolated optic atrophy cases. PMID: 21036400
  5. OPA3, as an integral mitochondrial outer membane perotein, has a crucial role in mitochondrial fission, and provides a direct link between mitochondrial morphology and optic atrophy. PMID: 20372962
  6. findings thus place the cellular metabolic defect of 3-methylglutaconic aciduria type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology. PMID: 20350831
  7. two missense mutations in OPA3 in two families affected by autosomal dominant optic atrophy and cataract (ADOAC) PMID: 15342707
  8. patient with Costeff syndrome presenting the characteristics of this syndrome and the single-nucleotide polymorphic gene that causes this disease. PMID: 16838891
  9. OPA1 mutations, mtDNA mutations, and OPA3 mutations in 980 patients Leber's hereditary optic neuropathy and autosomal dominant optic atrophy PMID: 19319978
  10. The mouse ortholog of OPA3 purifies with mitochondrial inner membranes. PMID: 12865426
  11. The mouse ortholog of OPA3 purifies with mitochondria PMID: 18614015
  12. type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews PMID: 11668429

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Involvement in disease
3-methylglutaconic aciduria 3 (MGA3); Optic atrophy 3 (OPA3)
Subcellular Location
Mitochondrion.
Protein Families
OPA3 family
Tissue Specificity
Ubiquitous. Most prominent expression in skeletal muscle and kidney.
Database Links

HGNC: 8142

OMIM: 165300

KEGG: hsa:80207

UniGene: Hs.466945

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