Gene Symbol | LRBA |
Entrez Gene ID | 987 |
Full Name | LPS responsive beige-like anchor protein |
Synonyms | BGL,CDC4L,CVID8,LAB300,LBA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) |