LRBA

LPS-responsive vesicle trafficking, beach and anchor containing

PDB rendering based on 1t77.
Identifiers
Symbols LRBA; BGL; CDC4L; DKFZp686A09128; DKFZp686K03100; DKFZp686P2258; FLJ16600; FLJ25686; LAB300; LBA; MGC72098
External IDs OMIM: 606453 MGI: 1933162 HomoloGene: 36205 GeneCards: LRBA Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 987 80877
Ensembl ENSG00000198589 ENSMUSG00000028080
UniProt P50851 n/a
RefSeq (mRNA) NM_001199282.1 NM_001077687
RefSeq (protein) NP_001186211.1 NP_001071155
Location (UCSC) Chr 4:
151.19 – 151.94 Mb		 Chr 3:
86.03 – 86.59 Mb
PubMed search [1] [2]

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

References

  1. ^ 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. PMID 1505956. 
  2. ^ 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. PMID 11254716. 
  3. ^ a b "Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=987. 

Further reading