Suvarna Garge (Editor)

LRBA

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Species
  
Human

Entrez
  
987

Human
  
Mouse

Ensembl
  
ENSG00000198589

LRBA

Aliases
  
LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein

External IDs
  
MGI: 1933162 HomoloGene: 36205 GeneCards: LRBA

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

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]

References

LRBA Wikipedia