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Beschreibung

Lipopolysaccharide-responsive and beige-like anchor protein (UniProt: P50851, also known as Beige-like protein, CDC4-like protein) is encoded by the LRBA (also known as BGL, CDC4L, LBA) gene (Gene ID: 987) in human. LRBA is a single-pass membrane protein that displays ubiquitous expression in normal tissues, but its expression is elevated in malignancy. In immune cells. It is found in all membrane compartments that are associated with receptor signaling, including the plasma membrane, Golgi complex, clathrin-coated pits, and trans-endocytic vesicles. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). Two isoforms of LRBA have been reported that are produced by alternative splicing. LRBA contains 2 BEACH (Beige and Chediak-Higashi) domains and six WD repeats at its C-terminal. LRBA may be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. It coordinates signaling of immune receptors to promote effector function and plays a crucial role in immune regulation. Mutations in LRBA gene are associated with defective B-cell differentiation and decreased or absent antibody production. (Ref.: Park, MY et al. (2016). Nat. Scientific Reports 6:36568).