Product Details

Purity

Greater than 90% as determined by SDS-PAGE.

Target Names

LRBA

Uniprot No.

P50851

Research Area

Signal Transduction

Alternative Names

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

Species

Homo sapiens (Human)

Source

E.coli

Expression Region

1267-1500aa

Target Protein Sequence

PQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLTDLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLSAATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGILRQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.

Mol. Weight

29.8kDa

Protein Length

Partial

Tag Info

N-terminal 6xHis-tagged

Form

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.

Buffer

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, pH 8.0.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

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.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Notes

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.

Target Background

Function

May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.

Gene References into Functions

LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. PMID: 28893864
The present results suggest that LRBA SNPs are associated with CWP susceptibility in a Chinese population. PMID: 28953250
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
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
Case Report: potential causative role of LRBA gene mutations in juvenile arthritis. PMID: 28134088
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
mutations result in various immunodeficiency phenotypes PMID: 26707784
homozygous frame shift mutation results in refractory Celiac dsease PMID: 26686526
diagnosis of LRBA deficiency was confirmed by a fluorescence-activated cell sorting-based immunoassay PMID: 26745254
Variants of LRBA were associated with common variable immunodeficiency. PMID: 26122175
A homozygous missense mutation in lipopolysaccharide-responsive and beige-like anchor gene is associated with inflammatory bowel disease. PMID: 25479458
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
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
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
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
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
The crystal structure of the aPH-BEACH domains of LRBA were studied. PMID: 15554694

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Involvement in disease

Immunodeficiency, common variable, 8, with autoimmunity (CVID8)

Subcellular Location

Cell membrane; Single-pass membrane protein. Endoplasmic reticulum. Golgi apparatus, trans-Golgi network. Lysosome.

Tissue Specificity

Ubiquitous.

Database Links

HGNC: 1742

OMIM: 606453

KEGG: hsa:987

STRING: 9606.ENSP00000349629

UniGene: Hs.480938

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Code	CSB-EP013070HU(C)
MSDS	MSDS
Size	$224
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Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Recombinant Human Lipopolysaccharide-responsive and beige-like anchor protein (LRBA), partial

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