Entrez gene ID | | 987 |
Official gene symbol | | LRBA |
Full name | | LPS-responsive vesicle trafficking, beach and anchor containing |
Aliases | | ,BGL,CDC4L,DKFZp686A09128,DKFZp686K03100,DKFZp686P2258,FLJ16600,FLJ25686,LAB300,LBA,MGC72098, |
Gene summary | | 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] |
Location | | Chromosome: 4 Locus: 4q31.3 |
Gene position | | 151936879 - 151185594 Map Viewer |
Gene orientation | | minus |
Gene size | | 751286 bp |
Gene sequence |
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OMIM ID | | 606453 |
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