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Biochem/physiol Actions
Leucine rich repeat containing eight family member A (LRRC8A) plays an important role in T cell development, survival and function. It also plays an essential role in B-cell development. In mouse, mutation in the gene leads to abnormalities of B cell development. In addition, mutation in the gene is also associated with the development of non-Bruton type agammaglobulinemia in humans.
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General description
This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. (provided by RefSeq)
Leucine rich repeat containing eight family member A (LRRC8A) is a 94kDa LRR-containing protein, encoded by the gene mapped to human chromosome 9q34.11. The encoded protein is ubiquitously expressed, but at higher levels on the surface of thymocytes than on other immune cells.
Immunogen
LRRC8A (NP_062540.2, 711 a.a. ~ 810 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceQNLAITANRIETLPPELFQCRKLRALHLGNNVLQSLPSRVGELTNLTQIELRGNRLECLPVELGECPLLKRSGLVVEEDLFNTLPPEVKERLWRADKEQA
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Physical form
Solution in phosphate buffered saline, pH 7.4
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