LRBA Gene

Last updated on: 25.05.2022

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DefinitionThis section has been translated automatically.

The LRBA gene (LRBA stands for "LPS Responsive Beige-Like Anchor Protein") is a protein-coding gene located on chromosome 4q31.3. Two transcript variants have been found for this gene, coding for different isoforms

General informationThis section has been translated automatically.

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 directing intracellular vesicles to activated receptor complexes, supporting secretion and/or membrane deposition of immune effector molecules.

Clinical pictureThis section has been translated automatically.

Note(s)This section has been translated automatically.

The encoded LRBA protein is involved in the coupling of signal transduction and vesicle transport to enable polarized secretion and/or membrane deposition of immune effector molecules. It is further involved in the growth of phagophores (= membranous structures that form as precursors of autophagosomes) during mitophagy by regulating ATG9A transport to mitochondria (Nguyen TN et al. 2021).

Note: see also under autophagy.

LiteratureThis section has been translated automatically.

  1. Alangari A et al. (2012) LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immun 130: 481-488.
  2. Burns SO et al (2012) LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. (Letter) J Allergy Clin Immun 130: 1428-1432.
  3. Charbonnier L-M et al (2015) Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immun 135: 217-227.
  4. Nguyen TN et al. (2021) ATG4 family proteins drive phagophore growth independently of the LC3/GABARAP lipidation system. Mol Cell 81:2013-2030.

Last updated on: 25.05.2022