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Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBA gene.[5][6][7]
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Aliases | LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606453; MGI: 1933162; HomoloGene: 36205; GeneCards: LRBA; OMA:LRBA - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins (AKAPs; see MIM 602449).[supplied by OMIM][7]
Deficiency of this protein in humans causes the condition known as LPS-responsive beige-like anchor protein deficiency.
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