LRBA (NM_006726) - LPS responsive beige-like anchor protein
Lipopolysaccharide-Responsive And Beige-Like Anchor Protein Isoform 2
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Protein
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Protein 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].
- Strand
- -
- Chromosome
- 4
- Protein
- 2863 residues
- All mutations
- 677
- PTM sites
- 97
- CDS
- 151,186,873 - 151,935,794
- Transcription
- 151,185,810 - 151,936,649
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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