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Immunogen sequence: GGWRVWVDTL SITHSKVTFE IHKENLANIF REQQGKVDEE IGLCSSTSVQ AASGIRRDIN VSVGSQQPDT KDSPVCPHFT TNGNENSSIE KTSSLESASN IELQTTNTSY EEMKAEQENQ ELPDEGTLEE TL
Highest antigen sequence identity to the following orthologs: Mouse - 67%, Rat - 65%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Beige-like protein; CDC4-like protein; Lipopolysaccharide-responsive and beige-like anchor protein; LPS-responsive vesicle trafficking, beach and anchor containing; vesicle trafficking, beach and anchor containing
基因别名: BGL; CDC4L; CVID8; LAB300; LBA; LRBA
UniProt ID: (Human) P50851
Entrez Gene ID: (Human) 987