Aliases for LRBA Gene
External Ids for LRBA Gene
Previous HGNC Symbols for LRBA Gene
Previous GeneCards Identifiers for LRBA Gene
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. [provided by RefSeq, Dec 2012]
GeneCards Summary for LRBA Gene
LRBA (LPS Responsive Beige-Like Anchor Protein) is a Protein Coding gene. Diseases associated with LRBA include Immunodeficiency, Common Variable, 8, With Autoimmunity and Immunodeficiency 8. Gene Ontology (GO) annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is NBEA.
UniProtKB/Swiss-Prot Summary for LRBA Gene
May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.