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 Lrba-Related Common Variable Immune Deficiency With Autoimmunity. GO annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is NBEA.
UniProtKB/Swiss-Prot 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.