LRBA May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. Defects in LRBA are the cause of immunodeficiency, common variable, type 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. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 3|3 F1
Cellular Component:  cytoplasmic vesicle; endoplasmic reticulum; Golgi apparatus; integral component of membrane; lysosome; membrane; plasma membrane; trans-Golgi network
Molecular Function:  protein kinase A binding
Biological Process:  cellular response to leukemia inhibitory factor; endosomal transport; protein localization; signal transduction
Reference #:  Q9ESE1 (UniProtKB)
Alt. Names/Synonyms: Beige-like protein; Bgl; C80285; D3Ertd775e; Lab300; Lba; Lipopolysaccharide-responsive and beige-like anchor protein; LPS-responsive beige-like anchor; Lrba
Gene Symbols: Lrba
Molecular weight: 317,064 Da
Basal Isoelectric point: 5.45  Predict pI for various phosphorylation states
Select Structure to View Below

LRBA

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene