Recombinant Human Lipopolysaccharide-Responsive And Beige-Like Anchor Protein (LRBA) Protein (His)
Beta LifeScience
SKU/CAT #: BLC-10295P

Greater than 90% as determined by SDS-PAGE.
Recombinant Human Lipopolysaccharide-Responsive And Beige-Like Anchor Protein (LRBA) Protein (His)
Beta LifeScience
SKU/CAT #: BLC-10295P
Our products are highly customizable to meet your specific needs. You can choose options such as endotoxin removal, liquid or lyophilized forms, preferred tags, and the desired functional sequence range for proteins. Submitting a written inquiry expedites the quoting process.
Product Overview
Description | Recombinant Human Lipopolysaccharide-Responsive And Beige-Like Anchor Protein (LRBA) Protein (His) is produced by our E.coli expression system. This is a protein fragment. |
Purity | Greater than 90% as determined by SDS-PAGE. |
Uniprotkb | P50851 |
Target Symbol | LRBA |
Synonyms | 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) |
Expression System | E.coli |
Tag | N-6His |
Target Protein Sequence | PQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLTDLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLSAATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGILRQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV |
Expression Range | 1267-1500aa |
Protein Length | Partial |
Mol. Weight | 29.8kDa |
Research Area | Signal Transduction |
Form | Liquid or Lyophilized powder |
Buffer | Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0. |
Reconstitution | Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%. |
Storage | 1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C. |
Notes | Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week. |
Target Details
Target Function | May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. |
Subcellular Location | Cell membrane; Single-pass membrane protein. Endoplasmic reticulum. Golgi apparatus, trans-Golgi network. Lysosome. |
Database References | |
Associated Diseases | Immunodeficiency, common variable, 8, with autoimmunity (CVID8) |
Tissue Specificity | Ubiquitous. |
Gene Functions References
- 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