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MBTPS2 Antibody

  • 货号：
    CSB-PA020285
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    O43462
  • 基因名：
  • 别名：
    BRESEK antibody; Endopeptidase S2P antibody; IFAP antibody; KFSDX antibody; MBTP2_HUMAN antibody; MBTPS2 antibody; Membrane bound transcription factor site 2 protease antibody; membrane-bound transcription factor peptidase, site 2 antibody; membrane-bound transcription factor protease, site 2 antibody; Membrane-bound transcription factor site-2 protease antibody; S2P antibody; S2P endopeptidase antibody; Site 2 protease antibody; SREBPs intramembrane protease antibody; Sterol regulatory element-binding proteins intramembrane protease antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human S2P.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    IF, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    IF 1:200-1:1000
    ELISA 1:20000
  • 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：
    Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2. Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription. Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B). Involved in intramembrane proteolysis during bone formation.
  • 基因功能参考文献：
    1. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. PMID: 27380894
    2. This study identified a direct regulatory effect of MBTPS2 on TRPV3 which can partially contribute to the overlapping clinical features of IFAP and Olmsted syndromes under a common signaling pathway. PMID: 28717930
    3. S2P is essential owing to its activation of the sterol regulatory element binding proteins (SREBPs); in the absence of exogenous lipid, cells lacking S2P cannot survive. (Review) PMID: 23571157
    4. In male patients, a genotype-phenotype correlation has begun to emerge, linking the site of the mutation in MBTPS2 with the clinical outcome described as IFAP syndrome. PMID: 23316014
    5. We demonstrate a novel association between an MBTPS2 mutation and an X-linked form of Olmsted syndrome. PMID: 22931912
    6. We report a fourth pedigree affected with Keratosis Follicularis Spinulosa Decalvans resulting from a recurrent missense mutation in the MBTPS2 gene. PMID: 22816986
    7. Both intronic MBTPS2 c.671-9T>G and c.225-6T>A point mutations are ichthyosis follicularis, alopecia and photophobia syndrome causing mutations. PMID: 21426410
    8. We confirm that MBTPS2 mutations cause ichthyosis follicularis atricia and photophobia syndrome in patients of Chinese origin PMID: 21315478
    9. Chinese family with a mild IFAP phenotype and a novel mutation in the MBTPS2 gene PMID: 20854407
    10. Missense mutations in the MBTPS2 gene have been identified as the cause of Follicularis Spinulosa Decalvans (KFSD). PMID: 20672378
    11. S2P-mediated ATF6 cleavage is involved in regulating XBP1 in signaling the unfolded protein response. PMID: 11850408
    12. S2P cleavage is blocked by the bulky ATF6 luminal domain, which is reduced in size by S1P PMID: 15299016
    13. assign the IFAP syndrome locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype PMID: 19361614
    14. study presents the largest kindred of ichthyosis follicularis, alopecia and photophobia (IFAP) reported to date clearly demonstrating X-linked inheritance; missense mutations of the gene, MBTPS2 are associated with the IFAP phenotype in this kindred PMID: 19689518

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  • 相关疾病：
    IFAP syndrome with or without BRESHECK syndrome (IFAPS); Olmsted syndrome, X-linked (OLMSX); Keratosis follicularis spinulosa decalvans X-linked (KFSDX)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein. Cytoplasm.
  • 蛋白家族：
    Peptidase M50A family
  • 组织特异性：
    Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
  • 数据库链接：

    HGNC: 15455

    OMIM: 300294

    KEGG: hsa:51360

    STRING: 9606.ENSP00000368798

    UniGene: Hs.443490