(LPS-Responsive Vesicle Trafficking, Beach and Anchor Containing (LRBA))
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].
Lopez-Herrera, Tampella, Pan-Hammarström, Herholz, Trujillo-Vargas, Phadwal, Simon, Moutschen, Etzioni, Mory, Srugo, Melamed, Hultenby, Liu, Baronio, Vitali, Philippet, Dideberg, Aghamohammadi et al.: "Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. ..." in: American journal of human genetics, Vol. 90, Issue 6, pp. 986-1001, (2012) (PubMed).
Burns, Zenner, Plagnol, Curtis, Mok, Eisenhut, Kumararatne, Doffinger, Thrasher, Nejentsev: "LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia." in: The Journal of allergy and clinical immunology, Vol. 130, Issue 6, pp. 1428-32, (2012) (PubMed).