| Entrez Gene ID |
987 |
| Official Gene Symbol |
LRBA (GeneCards) |
| Full name |
LPS responsive beige-like anchor protein |
| Location |
4q31.3 |
| Other ids |
Vega : OTTHUMG00000161443
MIM : 606453
HGNC : HGNC:1742
Ensembl : ENSG00000198589
|
| Other names |
BGL,
LBA,
CDC4L,
CVID8,
LAB300
|
| Summary |
The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] |