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EXT2 Antibody

  • 货号：
    CSB-PA007900GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q93063
  • 基因名：
    EXT2
  • 别名：
    Exostoses (multiple) 2 antibody; Exostosin 2 antibody; Exostosin-2 antibody; EXT2 antibody; EXT2_HUMAN antibody; Glucuronosyl N acetylglucosaminyl proteoglycan 4 alpha N acetylglucosaminyltransferase antibody; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase antibody; Multiple exostoses protein 2 antibody; N acetylglucosaminyl proteoglycan 4 beta glucuronosyltransferase antibody; Putative tumor suppressor protein EXT2 antibody; SOTV antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human EXT2
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan.
  • 基因功能参考文献：
    1. Let-7b-mediated suppression of initiation codon depends on the length of 5'-UTR of EXT2 mRNA and its suppression is inhibited in the presence of polyamines. PMID: 27650265
    2. the present study identified a novel missense mutation (c.1385G>A) in exon 8 and a splicing mutation (c.725+1G>C) in intron 3 of the EXT2 gene, which are responsible for MO in certain Chinese patients. The findings are useful for expanding the database of known EXT2 mutations and understanding the genetic basis of MO in Chinese patients, which may improve genetic counseling and the prenatal diagnosis of MO. PMID: 28849184
    3. Germline EXT2 mutation is associated with chondrosarcoma. PMID: 27636706
    4. The mutation results in deletion of exon 5 in the mRNA, producing a frameshift that leads to a premature termination codon. The present study extends the mutational spectrum of EXT2. PMID: 27748933
    5. s identified two homozygous mutations p.Met87Arg and p.Arg95 Cys in exostosin 2, EXT2, a ubiquitously expressed gene that encodes a glycosyltransferase. In patient cells, diminished expression and function was observed. PMID: 26246518
    6. EXT2 gene might not have a major role in the development of type 2 diabetes in the Chinese population. PMID: 25207843
    7. EXT2 mutation is associated with multiple osteochondromatosis. PMID: 25230886
    8. loss of function of EXT2 subjects with hereditary multiple exostoses affects pancreatic insulin secretion capacity and development. PMID: 25541963
    9. Analysis of microsatellite polymorphic markers in the 11p region harboring the EXT2 gene did not reveal any loss of heterozygosity PMID: 25744876
    10. The heterozygous mutation c.743+1G>A in the EXT2 gene causes HME as a result of abnormal splicing, mRNA decay, and the resulting haploinsufficiency of EXT2. PMID: 24728384
    11. The second exon of EXT2. A c.244delG mutation is associated with hereditary multiple exostosis. PMID: 25449079
    12. This study demonstrated no association of rs1113132, rs3740878 and rs11037909 EXT2 variants with type 2 diabetes mellitus. PMID: 23871501
    13. A meta analysis indicates variation in the EXT2 locus appears to be associated with a small increase in the risk of type 2 diabetes. PMID: 23052945
    14. Association of genetic variations in EXT2 with Type 2 diabetes mellitus in Tunisia PMID: 21510814
    15. Loss of heterozygosity for EXT2 is associated with multiple osteochondromas. PMID: 20813973
    16. primary defect in EXT2 mRNA level can produce profound effect on the synthesis of HS chains in cartilage, the consequence of which impacts on the regulation of chondrocyte proliferation and differentiation. PMID: 20872591
    17. The nonsens mutation 536G>A in the EXT2 is the disease-causing mutation in a family with hereditary multiple exostoses. PMID: 20140877
    18. the EXT1/2 heterocomplex can act as heparan sulfate polymerases in vitro without the addition of additional auxiliary proteins PMID: 12907669
    19. 112delAT causes multiple exostoses, indicating full penetrance since relatives with isolated exotoses lacked this deletion. PMID: 14654969
    20. Variations in EXT2 gene is associated with multiple osteochondromas PMID: 15586175
    21. Promoter methylation was not detected in any of the chondrosarcoma cases in EXT2. PMID: 15796962
    22. Detection of mutations in EXT2 gene can significantly improve the identification of both point-mutations and mid-size rearrangemements in osteochrondromas. PMID: 17301954
    23. Compared to EXT2-linkage, female individuals with EXT1-linkage were smaller in stature. PMID: 17676624
    24. A novel mutation, c505 G > T, in the EXT2 gene was identified in two unrelated Chinese families with hereditary multiple exostoses. PMID: 18294062
    25. A novel mutation in EXT2 gene in a Chinese family with hereditary exostoses is reported. PMID: 18666861
    26. Data show that SNPs in EXT2 did not confer a significant risk for type 2 diabetes in Pima Indians. PMID: 19008344
    27. The tumor suppressor gene EXT2 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas. PMID: 19179614
    28. A previously unreported stop mutation, the substitution c.817C>T, was observed in the EXT2 gene in an Indian pedigree of hereditary multiple exostoses families. PMID: 19309273

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  • 相关疾病：
    Hereditary multiple exostoses 2 (EXT2); Potocki-Shaffer syndrome (POSHS); Seizures, scoliosis, and macrocephaly syndrome (SSMS)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.
  • 蛋白家族：
    Glycosyltransferase 47 family
  • 组织特异性：
    Ubiquitous.
  • 数据库链接：

    HGNC: 3513

    OMIM: 133701

    KEGG: hsa:2132

    STRING: 9606.ENSP00000379032

    UniGene: Hs.368404