Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for LRBA (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID987
Official gene symbolLRBA
Full nameLPS-responsive vesicle trafficking, beach and anchor containing
Aliases,BGL,CDC4L,DKFZp686A09128,DKFZp686K03100,DKFZp686P2258,FLJ16600,FLJ25686,LAB300,LBA,MGC72098,
Gene summaryPatients 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]
LocationChromosome: 4   Locus: 4q31.3
Gene position151936879 - 151185594  Map Viewer
Gene orientationminus
Gene size751286 bp
Gene sequence
OMIM ID606453