Recombinant Human Limbin(EVC2),partial

Code CSB-YP769777HU
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Source Yeast
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Code CSB-EP769777HU
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Source E.coli
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Code CSB-EP769777HU-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-BP769777HU
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Source Baculovirus
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Code CSB-MP769777HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names EVC2
Uniprot No. Q86UK5
Alternative Names EVC2; LBN; Limbin; Ellis-van Creveld syndrome protein 2; EVC2
Species Homo sapiens (Human)
Protein Length Partial
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
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
Protein 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
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
Gene References into Functions
  1. he whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. PMID: 29321360
  2. sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families.. PMID: 26580685
  3. Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. PMID: 26621368
  4. we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel. PMID: 23220543
  5. Identification of a novel genotype in EvC will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling PMID: 23026208
  6. Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. PMID: 21533779
  7. In this study, two novel heterozygous EVC2 mutations, IVS 5-2A > G and c.2653C > T (Arg88 5X), were identified in the patient; the IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father PMID: 21815252
  8. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects. PMID: 21199751
  9. STK32b, EVC and EVC2 genes yielded suggestive evidence for linkage and disepuilibrium among cleft palate trios. PMID: 20087401
  10. A novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene was found in a family with child diagnosed with Ellis-van Creveld syndrome in the United Arab Emirates. PMID: 20184732
  11. The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect. PMID: 19810119
  12. EVC2 is mutated in an Ashkenazi individual with Ellis-van Creveld syndrome PMID: 12468274
  13. Mutations in this gene cause Ellis-van Creveld syndrome. PMID: 12571802
  14. Data provide conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions. PMID: 16404586
  15. EVC and LBN play roles in cardiovascular development and disease. PMID: 19251731

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Involvement in disease Ellis-van Creveld syndrome (EVC); Acrofacial dysostosis, Weyers type (WAD)
Subcellular Location Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Nucleus.
Tissue Specificity Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Database Links

HGNC: 19747

OMIM: 193530

KEGG: hsa:132884

STRING: 9606.ENSP00000342144

UniGene: Hs.87306

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