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  4. Recombinant Human Ectodysplasin-A (EDA), partial

Recombinant Human Ectodysplasin-A (EDA), partial

  • 货号：
    CSB-YP856433HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP856433HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP856433HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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.

  • 其他：
  • 货号：
    CSB-BP856433HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP856433HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    EDA
  • Uniprot No.：
  • 别名：
    ECTD1; Ectodermal dysplasia 1; anhidrotic ; Ectodermal dysplasia protein; Ectodermal dysplasia; anhidrotic (hypohydrotic); Ectodysplasin A; Ectodysplasin A; membrane form; Ectodysplasin A; secreted form; ECTODYSPLASIN A1 ISOFORM; ECTODYSPLASIN A2 ISOFORM; ECTODYSPLASIN; Ectodysplasin-A; ED1 A1; ED1 A2; ED1; ED1 GENE; Eda A1; Eda A2 ; eda; EDA protein; EDA protein homolog; EDA_HUMAN; EDA1; EDA1 GENE; EDA2; HED; HED1; ODT1; Oligodontia 1; secreted form; STHAGX1; Ta; Tabby; Tabby protein ; X linked anhidroitic ectodermal dysplasia protein; XHED; XLHED
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R. May also play a role in cell adhesion.; Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.; Binds only to the receptor EDA2R.
  • 基因功能参考文献：
    1. Mutations were identified in all seven families, including four previously reported missense mutations (p.M1T, p.R156C, p.G299S, and p.A349T) and three novel mutations; missense mutation (p.Q358 L), indel (P228Tfs*52), as well as a large deletion. PMID: 30117778
    2. A novel functional skipping-splicing EDA mutation was considered to be the cause of HED in the two pedigrees reported here. PMID: 29676859
    3. Case Report: EDA mutation causing hypohidrotic ectodermal dysplasia with hyperplasia of the sebaceous glands in a Chinese patient. PMID: 28498389
    4. This is the first analysis of the role of Eda in the root, showing a direct role for this pathway during postnatal mouse development, and it suggests that changes in proliferation and angle of HERS may underlie taurodontism in a range of syndromes. PMID: 28813629
    5. Data suggest that EDA is highly expressed in meibomian glands and is detectible in human tears but not serum; EDA protein is secreted from meibomian glands and promotes corneal epithelial cell proliferation through regulation of EGFR signaling pathway. (EGFR = epidermal growth factor receptor) PMID: 28655773
    6. EDA is an important candidate gene for two developmental diseases sharing the common feature of the congenital lack of teeth. In addition, these results can support the hypothesis that X-linked HED and EDA-related NTA are the same disease with different degrees of severity. PMID: 27054699
    7. EDA-A2 and its receptor XEDAR are overexpressed in epithelial cells of salivary glands in Sjogren's syndrome patients, in comparison with healthy individuals. The EDA-A2/XEDAR system in these cells is involved in the induction of apoptosis via CASP3 activation. PMID: 26659383
    8. Based on a computerized protein structure analysis, we suggest that the change p.Arg289His in EDA impairs protein stabilization and thus might possibly be involved in the development of oligodontia concomitant with a mild ED phenotype. PMID: 26753551
    9. we identified a novel and three reported EDA missense mutations in four of six patients with X-linked hypohidrotic ectodermal dysplasia. Missense mutations and the mutations affecting the tumor necrosis factor homology domain were correlated with fewer missing teeth. PMID: 26411740
    10. hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family PMID: 25438642
    11. Our findings indicate that a novel mutation (c.878T>G) of EDA is associated with XLHED and adds to the repertoire of EDA mutations. PMID: 26634545
    12. We found a novel missense mutation in exon 1 of the EDA1 gene in a putative Mayan family from Mexico with XL-HED. PMID: 25626993
    13. A novel missense mutation in the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. PMID: 25846883
    14. novel nonsense mutation in Chinese family PMID: 25296636
    15. dentified a novel deletion mutation located in exon 1 which if expressed would produce a highly truncated protein in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia PMID: 24985548
    16. novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis PMID: 25203534
    17. novel one-nucleotide deletion mutation (c.855delG) of EDA in exon 8 which caused premature termination of the polypeptide at amino acid 307 was confirmed PMID: 23635427
    18. hemizygous nonsense mutation c.739C>T (p.Q247X) in exon 4 associated with x-linked hypohidrotic ectodermal dysplasia PMID: 24503206
    19. WNT10A and EDA digenic mutations could result in oligodontia and syndromic tooth agenesis in the Chinese population. Moreover, our results will greatly expand the genotypic spectrum of tooth agenesis. PMID: 24312213
    20. involvement of PAX9, EDA, SPRY2, SPRY4, and WNT10A as risk factors for MLIA. uncovered 3 strong synergistic interactions between MLIA liability and MSX1-TGFA, AXIN2-TGFA, and SPRY2-SPRY4 gene pairs. 1st evidence of sprouty genes in MLIA susceptibility. PMID: 24554542
    21. The mutation described resulted in a deletion of the highly conserved TNF homology sequence responsible for binding to EDA1R. PMID: 22835214
    22. Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene. In a Japanese boy, 3 .months old PMID: 23293949
    23. The deletion and missense mutation in ED1 gene is associated with X-linked hypohidrotic ectodermal dysplasia families. PMID: 23926003
    24. most of these Chinese XLHED carriers' have hypermethylated EDA promoter. PMID: 23626789
    25. Identification of a novel c.822 G>T mutation of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. PMID: 23744312
    26. identified novel missense mutation (c.779 T>G) in Nonsyndromic Hypodontia. mutation results in Ile260Ser substitution in the TNF homology domain. alteration may induce conformational change in hydrophobic center of TNF homology domain. PMID: 23625373
    27. identified heterozygous nonsense mutation c.874G>T (p.Glu292X) in TNF homology domain of EDA in all affected females. phenotype variability in heterozygous female carriers may occur due to differential pattern of X-chromosome inactivation PMID: 23603338
    28. Various mutations of ED1 gene were detected. PMID: 22875504
    29. The finding that EDAR370A attenuates hypohidrotic ectodermal dysplasia symptoms provides the first in vivo evidence that allele is a more potent signalling molecule than EDAR370V. PMID: 21916884
    30. we report a novel mutation of the EDA gene identified in a Korean family with X-linked hypohidrotic ectodermal dysplasia. PMID: 22004506
    31. Direct DNA sequencing of the whole coding region of EDA revealed a novel missense mutation, p.Leu354Pro in a patient affected with XLHED. PMID: 22008666
    32. EDA1 gene was the most common hypohidrotic/anhidrotic ectodermal dysplasia disease-causing gene PMID: 20979233
    33. there exists a correlation between the phenotypes and genotypes of XLHED and NSH subjects harboring EDA mutations PMID: 21457804
    34. Systematic mapping of EDA mutations together with the analysis of objective clinical data may help to distinguish functionally crucial mutations from those allowing residual activity of the gene product. PMID: 21357618
    35. association in dental crowding in the Hong Kong Chinese population PMID: 21724072
    36. Direct sequencing of the EDA-A1 gene in affected individuals of the 3 families revealed the same missense mutation. Microsatellite marker analysis showed a shared haplotype among the affected members of both families, suggesting a common founder mutation. PMID: 20628232
    37. This study further confirms the differential effect of the mutations in EDA gene that define the pathogenic basis of X-linked recessive isolated hypodontia. PMID: 21091672
    38. Data show that 25 different mutations on EDA and EDAR genes were detected in HED patients. PMID: 20236127
    39. A crucial role of the EDA-A2/ectodysplasin A2 (XEDAR) interaction is revealed in the p53-signaling pathway. PMID: 20501644
    40. analysis of Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia [case report] PMID: 20486090
    41. EDA has been identified as a nonsyndromic tooth agenesis gene, X-linked. PMID: 19816326
    42. An in vitro functional analysis was performed of six selective tooth agenesis-causing EDA mutations (one novel and five known) that are located in the C-terminal tumor necrosis factor homology domain of the protein. PMID: 19623212
    43. The structure of the EDA1 gene in a patient with anhidrotic ectodermal dysplasia PMID: 12673367
    44. The ED1 gene was identified as a responsive gene for X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA. PMID: 12920369
    45. identified ED1 mutations including three novel mutations by sequencing genomic DNAs from eight unrelated Japanese X-linked hypohidrotic ectodermal dysplasia families PMID: 12930312
    46. point mutation (G1149A) in exon 8 changes codon 291 from glycine to arginine causing X-linked hypohidrotic ectodermal dysplasia PMID: 15663448
    47. isoforms of EDA-A5 and A5',activated NF-kappaB through receptors EDAR and XEDAR PMID: 16423472
    48. EDA signaling has its biological significance in inducing development and morphogenesis of sweat glands and in maintaining physiological function of skin. PMID: 16752854
    49. EDA signaling has a role in skin appendage development [review] PMID: 17102627
    50. An amino acid substitution in ectodysplasin A is associated with X-linked dominant incisor hypodontia. PMID: 17256800

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  • 相关疾病：
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED); Tooth agenesis, selective, X-linked, 1 (STHAGX1)
  • 亚细胞定位：
    Cell membrane; Single-pass type II membrane protein.; [Ectodysplasin-A, secreted form]: Secreted.
  • 蛋白家族：
    Tumor necrosis factor family
  • 组织特异性：
    Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord.
  • 数据库链接：

    HGNC: 3157

    OMIM: 300451

    KEGG: hsa:1896

    STRING: 9606.ENSP00000363680

    UniGene: Hs.105407