LRBA explained

Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBA gene.^{[1] [2]}

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]^[3]

Deficiency of this protein in humans causes the condition known as LPS-responsive beige-like anchor protein deficiency.

Further reading

• Ewing RM, Chu P, Elisma F, etal . Large-scale mapping of human protein–protein interactions by mass spectrometry . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 .
• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Gebauer D, Li J, Jogl G, etal . Crystal structure of the PH-BEACH domains of human LRBA/BGL . Biochemistry . 43 . 47 . 14873–80 . 2005 . 15554694 . 10.1021/bi049498y .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Dyomin VG, Chaganti SR, Dyomina K, etal . BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function . Genomics . 80 . 2 . 158–65 . 2003 . 12160729 . 10.1006/geno.2002.6822 .

Notes and References

1. Feuchter AE, Freeman JD, Mager DL . Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4 . Genomics . 13 . 4 . 1237–46 . Sep 1992 . 1505956 . 10.1016/0888-7543(92)90041-P .
2. Wang JW, Howson J, Haller E, Kerr WG . Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins . J Immunol . 166 . 7 . 4586–95 . Mar 2001 . 11254716 . 10.4049/jimmunol.166.7.4586. free .
3. Web site: Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing.