Leucine rich repeat containing eight family member A (LRRC8A) is a 94 kDa 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.
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)
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.
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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Physical form
Solution in phosphate buffered saline, pH 7.4
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Volume-regulated anion channels (VRACs) participate in the cellular response to osmotic swelling. These membrane proteins consist of heteromeric assemblies of LRRC8 subunits, whose compositions determine permeation properties. Although structures of the obligatory LRRC8A, also referred to as SWELL1, have previously
BTKbase: the mutation database for X?linked agammaglobulinemia.
Members of the LRRC8 family form heteromeric assemblies, which function as volume-regulated anion channels. These modular proteins consist of a transmembrane pore and cytoplasmic leucine-rich repeat (LRR) domains. Despite their known molecular architecture, the mechanism of activation and the role
The Journal of experimental medicine, 211(5), 929-942 (2014-04-23)
Lrrc8a is a ubiquitously expressed gene that encodes a leucine-rich repeat (LRR)-containing protein detected at higher levels on the surface of thymocytes than on other immune cells. We generated Lrrc8a(-/-) mice to investigate the role of LRRC8A in lymphocyte development
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