Recombinant Human Coiled-coil domain-containing protein 50 (CCDC50)

Code CSB-YP812874HU
MSDS
Size Pls inquire
Source Yeast
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Code CSB-EP812874HU
MSDS
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Source E.coli
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Code CSB-EP812874HU-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-BP812874HU
MSDS
Size Pls inquire
Source Baculovirus
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Code CSB-MP812874HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
CCDC50
Uniprot No.
Alternative Names
C3orf6; C3orf6 YMER; CCD50_HUMAN; CCDC 50; Ccdc50; Chromosome 3 open reading frame 6; Coiled coil domain containing 50; Coiled coil domain containing protein 50; Coiled-coil domain-containing protein 50; Protein Ymer; Ymer; Ymer protein
Species
Homo sapiens (Human)
Expression Region
2-306
Target Protein Sequence
AEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR LVQHDLQVAK QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE RRRIQEKKDE DIARLLQEKE LQEEKKRKKH FPEFPATRAY ADSYYYEDGG MKPRVMKEAV STPSRMAHRD QEWYDAEIAR KLQEEELLAT QVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK TAKAANSKSK ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK GFHYKH
Protein Length
Full Length of Mature 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.

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Target Background

Function
Involved in EGFR signaling.
Gene References into Functions
  1. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] PMID: 27142990
  2. Ymer acts as a regulator downstream of several receptors and that Ymer functions as a positive or negative regulator in a signaling pathway-dependent manner. PMID: 22331027
  3. identification of a novel DFNA locus on chromosome 3q28-29 in a Spanish family with postlingual and progressive hearing loss[DFNA44] PMID: 12483295
  4. Ymer functions as a novel inhibitor for the down-regulation of the EGF receptor and plays a crucial role for regulating the amount of the EGF receptor on the cell surface membrane PMID: 16803894
  5. These findings demonstrate that Ymer is likely to be a negative regulator for the NF-kappaB signaling pathway. PMID: 19059208
  6. CCDC50 is required for survival in mantle cell lymphoma and chronic lymphocytic leukemia cells and controls NFkappaB signaling PMID: 19641524

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Involvement in disease
Deafness, autosomal dominant, 44 (DFNA44)
Subcellular Location
Cytoplasm.
Tissue Specificity
Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart.
Database Links

HGNC: 18111

OMIM: 607453

KEGG: hsa:152137

UniGene: Hs.478682

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