LRBA
Description
The LRBA (LPS responsive beige-like anchor protein) is a protein-coding gene located on chromosome 4.
LRBA is a human protein encoded by the LRBA gene. It is important for the proper functioning of the immune system. LRBA defects lead to a condition known as LPS-responsive beige-like anchor protein deficiency. This condition is similar to Chediak-Higashi syndrome, where problems with vesicle trafficking in immune cells cause a weakened immune response. LRBA shares features with the 'beige' protein, which is involved in vesicle movement, and A kinase anchor proteins (AKAPs).
LRBA plays a role in connecting signal transduction with vesicle trafficking. This allows for the directed release of immune response molecules. It also helps with the formation of phagophores during mitophagy by guiding ATG9A to mitochondria.
LRBA is also known as BGL, CDC4L, CVID8, LAB300, LBA, uc.147.
