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

中文名稱：

人LRBA重組蛋白
貨號：

CSB-EP013070HU(C)
說明書：

MSDS Datasheet
規(guī)格：

￥1344
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

LRBA
Uniprot No.：

P50851
別名：

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
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

29.8kDa
表達(dá)區(qū)域：

1267-1500aa
氨基酸序列

PQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLTDLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLSAATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGILRQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標(biāo)簽：

N-terminal 6xHis-tagged
產(chǎn)品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)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.
貨期：

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.
注意事項(xiàng)：

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.

產(chǎn)品評價(jià)

靶點(diǎn)詳情

功能：

May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.
基因功能參考文獻(xiàn)：
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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相關(guān)疾病：

Immunodeficiency, common variable, 8, with autoimmunity (CVID8)
亞細(xì)胞定位：

Cell membrane; Single-pass membrane protein. Endoplasmic reticulum. Golgi apparatus, trans-Golgi network. Lysosome.
組織特異性：

Ubiquitous.
數(shù)據(jù)庫鏈接：

HGNC: 1742

OMIM: 606453

KEGG: hsa:987

STRING: 9606.ENSP00000349629

UniGene: Hs.480938