Tags: Protein.

Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBA gene.Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) 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.

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