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The protein encoded by LRBA is a member of the WDL-BEACH-WD (WBW) gene family. Additionally we are shipping LRBA Antibodies (16) and LRBA Proteins (2) and many more products for this protein.
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LRBA deficiency is associated with a reduced abundance of radixin and Nherf2, two adaptor proteins, which are important for the mechanical stability of the basal taper region of stereocilia.
these studies revealed that LRBA has a critical, cell-autonomous role in promoting cytotoxic T-lymphocyte antigen-4 (show CTLA4 ELISA Kits) accumulation within CD4 (show CD4 ELISA Kits) effector T cells and FOXP3 (show FOXP3 ELISA Kits)+ T-regulatory cells
Lrba-/- mice displayed decreased cytotoxic T-lymphocyte-associated protein-4 (show CTLA4 ELISA Kits) expression by regulatory T cells and activated conventional CD4 (show CD4 ELISA Kits)+ and CD8 (show CD8A ELISA Kits)+ T lymphocytes, reduced frequency of peritoneal B-1a cells along with diminished interleukin-10 (show IL10 ELISA Kits) production and increased percentages of T follicular helper cells in Peyer's patches, but without developing overt signs of autoimmunity
These findings demonstrate that LRBA is redundant for host longevity while being essential for both host and donor-mediated immune responses and thus represents a unique and novel molecular target in transplant immunology.
LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.
The present results suggest that LRBA SNPs are associated with CWP susceptibility in a Chinese population.
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
Assessing total CTLA-4 (show CTLA4 ELISA Kits) expression levels was found to be optimal when restricting analysis to the CD45RA(-)Foxp3 (show FOXP3 ELISA Kits)(+) fraction. CTLA-4 (show CTLA4 ELISA Kits) induction following stimulation, and the use of lysosomal-blocking compounds, distinguished CTLA-4 (show CTLA4 ELISA Kits) from LRBA mutations
Case Report: potential causative role of LRBA gene mutations in juvenile arthritis.
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.
diagnosis of LRBA deficiency was confirmed by a fluorescence-activated cell sorting-based immunoassay
Variants of LRBA were associated with common variable immunodeficiency.
A homozygous missense mutation in lipopolysaccharide-responsive and beige (show LYST ELISA Kits)-like anchor gene is associated with inflammatory bowel disease.
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 (show FASL ELISA Kits) levels.
The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene.
, lipopolysaccharide-responsive and beige-like anchor protein
, CDC4-like protein
, vesicle trafficking, beach and anchor containing