LRBA

LPS-responsive vesicle trafficking, beach and anchor containing, also known as LRBA, is a human gene.cite web | title = Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=987| accessdate = ]

PBB_Summary
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summary_text = 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] cite web | title = Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=987| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Ewing RM, Chu P, Elisma F, "et al." |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
*cite journal | author=Gebauer D, Li J, Jogl G, "et al." |title=Crystal structure of the PH-BEACH domains of human LRBA/BGL. |journal=Biochemistry |volume=43 |issue= 47 |pages= 14873-80 |year= 2005 |pmid= 15554694 |doi= 10.1021/bi049498y
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Dyomin VG, Chaganti SR, Dyomina K, "et al." |title=BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function. |journal=Genomics |volume=80 |issue= 2 |pages= 158-65 |year= 2003 |pmid= 12160729 |doi=
*cite journal | author=Wang JW, Howson J, Haller E, Kerr WG |title=Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins. |journal=J. Immunol. |volume=166 |issue= 7 |pages= 4586-95 |year= 2001 |pmid= 11254716 |doi=
*cite journal | author=Feuchter AE, Freeman JD, Mager DL |title=Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4. |journal=Genomics |volume=13 |issue= 4 |pages= 1237-46 |year= 1992 |pmid= 1505956 |doi=

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