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  4. Recombinant Human Lipopolysaccharide-responsive and beige-like anchor protein (LRBA), partial

Recombinant Human Lipopolysaccharide-responsive and beige-like anchor protein (LRBA), partial

  • 中文名称：
    人LRBA重组蛋白
  • 货号：
    CSB-EP013070HU(N)
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    LRBA
  • Uniprot No.：
  • 别名：
    Beige-like protein; BGL; C80285; CDC4-like protein; CDC4L; CVID8; D3Ertd775e; Lab300; LBA; Lipopolysaccharide-responsive and beige-like anchor protein; LPS-responsive vesicle trafficking beach and anchor containing; Lrba; LRBA_HUMAN; Vesicle trafficking beach and anchor containing
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    31.6kDa
  • 表达区域：
    1-251aa
  • 氨基酸序列
    MASEDNRVPSPPPTGDDGGGGGREETPTEGGALSLKPGLPIRGIRMKFAVLTGLVEVGEVSNRDIVETVFNLLVGGQFDLEMNFIIQEGESINCMVDLLEKCDITCQAEVWSMFTAILKKSIRNLQVCTEVGLVEKVLGKIEKVDNMIADLLVDMLGVLASYNLTVRELKLFFSKLQGDKGRWPPHAGKLLSVLKHMPQKYGPDAFFNFPGKSAAAIALPPIAKWPYQNGFTFHTWLRMDPVNNINVDKDK
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.
  • 基因功能参考文献：
    1. LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. PMID: 28893864
    2. The present results suggest that LRBA SNPs are associated with CWP susceptibility in a Chinese population. PMID: 28953250
    3. As diabetes was the presenting feature in six of nine individuals, we recommend that testing for LRBA mutations is considered in all patients with newly diagnosed neonatal diabetes and in those with infancy-onset diabetes (<12 months), especially when a recessive inheritance is suspected or additional autoimmune features are present PMID: 28473463
    4. Assessing total CTLA-4 expression levels was found to be optimal when restricting analysis to the CD45RA(-)Foxp3(+) fraction. CTLA-4 induction following stimulation, and the use of lysosomal-blocking compounds, distinguished CTLA-4 from LRBA mutations PMID: 28159733
    5. Case Report: potential causative role of LRBA gene mutations in juvenile arthritis. PMID: 28134088
    6. Among 2 brothers homozygous for LPS responsive beige-like anchor protein (LRBA) mutation, one developed Evans syndrome and deceased at age 8.5, and his brother carried the same homozygous LRBA mutation with early-onset erosive polyarthritis. PMID: 27057999
    7. mutations result in various immunodeficiency phenotypes PMID: 26707784
    8. homozygous frame shift mutation results in refractory Celiac dsease PMID: 26686526
    9. diagnosis of LRBA deficiency was confirmed by a fluorescence-activated cell sorting-based immunoassay PMID: 26745254
    10. Variants of LRBA were associated with common variable immunodeficiency. PMID: 26122175
    11. A homozygous missense mutation in lipopolysaccharide-responsive and beige-like anchor gene is associated with inflammatory bowel disease. PMID: 25479458
    12. LRBA mutation was associated with an autoimmune lymphoproliferative syndrome-like disease characterized by splenomegaly and lymphadenopathy, cytopenia, elevated double negative T cells and raised serum Fas ligand levels. PMID: 25931386
    13. Patients with LRBA deficiency manifested a dramatic and sustained improvement in response to abatacept, a CTLA4 (cytotoxic T lymphocyte antigen-4)-immunoglobulin fusion drug. PMID: 26206937
    14. LRBA deficiency is a novel cause of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome and Treg cell deficiency associated with metabolic dysfunction and increased apoptosis of Treg cells. PMID: 25468195
    15. A truncating mutation in LRBA, which abolished protein expression, was identified as the most likely candidate in a consanguineous family with chronic inflammatory bowel disease-like disorder and combined immunodeficiency. PMID: 22721650
    16. mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and by susceptibility to apoptosis, associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity PMID: 22608502
    17. The crystal structure of the aPH-BEACH domains of LRBA were studied. PMID: 15554694

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  • 相关疾病：
    Immunodeficiency, common variable, 8, with autoimmunity (CVID8)
  • 亚细胞定位：
    Cell membrane; Single-pass membrane protein. Endoplasmic reticulum. Golgi apparatus, trans-Golgi network. Lysosome.
  • 组织特异性：
    Ubiquitous.
  • 数据库链接：

    HGNC: 1742

    OMIM: 606453

    KEGG: hsa:987

    STRING: 9606.ENSP00000349629

    UniGene: Hs.480938