Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBAgene.[1][2][3]
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]
↑Feuchter AE, Freeman JD, Mager DL (Sep 1992). "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. doi:10.1016/0888-7543(92)90041-P. PMID1505956.
↑Wang JW, Howson J, Haller E, Kerr WG (Mar 2001). "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. doi:10.4049/jimmunol.166.7.4586. PMID11254716.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID17081983.
Gebauer D, Li J, Jogl G, et al. (2005). "Crystal structure of the PH-BEACH domains of human LRBA/BGL". Biochemistry. 43 (47): 14873–80. doi:10.1021/bi049498y. PMID15554694.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Dyomin VG, Chaganti SR, Dyomina K, et al. (2003). "BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function". Genomics. 80 (2): 158–65. doi:10.1006/geno.2002.6822. PMID12160729.
