Description
Patients with Chediak-Higashi syndrome (CHS1) 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 (beige and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins.
The alpha isoform has 5 WD repeats, while the beta isoform has 3 and the gamma isoform lacks WD repeats. The 2,863-amino acid human LRBA protein is 85% identical to the mouse protein, and they have homology to a Drosophila anchor protein, Akap550