Anti-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], Protein function: Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria (PubMed:33773106). [The UniProt Consortium] Recommended dilutions: IHC-p 1:50-300. Cellular localization: Cell membrane , Single-pass membrane protein . Endoplasmic reticulum membrane , Single-pass membrane protein . Golgi apparatus, trans-Golgi network membrane , Single-pass membrane protein . Lysosome membrane , Single-pass membrane protein .