LRBA Antibody, FITC conjugated

說明書

中文名稱：

LRBA兔多克隆抗體, FITC偶聯
貨號：

CSB-PA013070LC01HU
規格：

￥880
其他：

產品詳情
產品評價
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靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) LRBA Polyclonal antibody
Uniprot No.：

P50851
基因名：

LRBA
別名：

Beige-like protein antibody; BGL antibody; C80285 antibody; CDC4-like protein antibody; CDC4L antibody; CVID8 antibody; D3Ertd775e antibody; Lab300 antibody; LBA antibody; Lipopolysaccharide-responsive and beige-like anchor protein antibody; LPS-responsive vesicle trafficking beach and anchor containing antibody; Lrba antibody; LRBA_HUMAN antibody; Vesicle trafficking beach and anchor containing antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Lipopolysaccharide-responsive and beige-like anchor protein (2-252AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

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：
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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相關疾病：

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

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

Ubiquitous.
數據庫鏈接：

HGNC: 1742

OMIM: 606453

KEGG: hsa:987

STRING: 9606.ENSP00000349629

UniGene: Hs.480938

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