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LBA / LRBA 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.
Gene Name: | LPS-responsive vesicle trafficking, beach and anchor containing |
Synonyms: | LRBA, CDC4-like protein, CDC4L, Beige-like protein, BGL, CVID8, LAB300, LBA |
Target Sequences: | M83822 AAB09603.1 P50851 |
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