LRBA
Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBA gene.
Patients with Chediak-Higashi syndrome suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in a number of immune system cell types. In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins.
Deficiency of this protein in humans causes the condition known as LPS-responsive beige-like anchor protein deficiency.
