LRBA
Function
Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria (PubMed:33773106).
Involvement in disease
Immunodeficiency, common variable, 8, with autoimmunity
CVID8
An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitous.
Cellular localization
- Cell membrane
- Single-pass membrane protein
- Endoplasmic reticulum membrane
- Single-pass membrane protein
- Golgi apparatus
- trans-Golgi network membrane
- Single-pass membrane protein
- Lysosome membrane
- Single-pass membrane protein
Alternative names
BGL, CDC4L, LBA, LRBA, Lipopolysaccharide-responsive and beige-like anchor protein, Beige-like protein, CDC4-like protein