Recombinant Human Transmembrane inner ear expressed protein (TMIE), partial

Code CSB-YP850875HU
MSDS
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Source Yeast
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Code CSB-EP850875HU
MSDS
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Source E.coli
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Code CSB-EP850875HU-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-BP850875HU
MSDS
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Source Baculovirus
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Code CSB-MP850875HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
TMIE
Uniprot No.
Alternative Names
TMIE; Transmembrane inner ear expressed protein
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, 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
Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain.
Gene References into Functions
  1. Description of the spectrum of mutations in TMIE in 374 families with autosomal recessive, non-syndromic hearing loss from India. PMID: 24416283
  2. We suggest that a missense variant and one promoter variant is de novo and may be a risk factor for the development of hearing loss in Taiwanese PMID: 20206386
  3. Observational study of gene-disease association. (HuGE Navigator) PMID: 20206386
  4. genetic mapping data support human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus PMID: 12140191
  5. identification of 5 different homozygous recessive mutations in a novel gene, TMIE= transmembrane inner ear expressed gene, in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6 PMID: 12145746
  6. The circling mouse is a potential animal model for DFNB6 deafness in humans. PMID: 14727813
  7. p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL) PMID: 19438934

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Involvement in disease
Deafness, autosomal recessive, 6 (DFNB6)
Subcellular Location
Membrane; Single-pass type I membrane protein.
Tissue Specificity
Expressed in many tissues.
Database Links

HGNC: 30800

OMIM: 600971

KEGG: hsa:259236

STRING: 9606.ENSP00000324775

UniGene: Hs.185777

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