Recombinant Human Transmembrane protein 126A (TMEM126A), partial

Code CSB-YP023692HU1
MSDS
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Source Yeast
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Code CSB-EP023692HU1
MSDS
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Source E.coli
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Code CSB-EP023692HU1-B
MSDS
Size Pls inquire
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-BP023692HU1
MSDS
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Source Baculovirus
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Code CSB-MP023692HU1
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
TMEM126A
Uniprot No.
Alternative Names
TMEM126A; Transmembrane protein 126A
Species
Homo sapiens (Human)
Protein Length
Partial
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.
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

Gene References into Functions
  1. TMEM126A is a mitochondrial located mRNA (MLR) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane PMID: 23500070
  2. The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy. PMID: 22815638
  3. The first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy, is described. PMID: 20405026
  4. TMEM126A encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms. PMID: 19327736
Involvement in disease
Optic atrophy 7 with or without auditory neuropathy (OPA7)
Subcellular Location
Mitochondrion inner membrane; Multi-pass membrane protein.
Protein Families
TMEM126 family
Tissue Specificity
Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells.
Database Links

HGNC: 25382

OMIM: 612988

KEGG: hsa:84233

STRING: 9606.ENSP00000306887

UniGene: Hs.533725

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