|Other Names||Volume-regulated anion channel subunit LRRC8A, Leucine-rich repeat-containing protein 8A, Swelling protein 1, LRRC8A, KIAA1437, LRRC8, SWELL1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||KIAA1437, LRRC8, SWELL1|
|Function||Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity).|
|Cellular Location||Cell membrane; Multi-pass membrane protein. Note=The leucine-rich repeat (LRR) domain is on the cytoplasmic side of the cell membrane|
|Tissue Location||Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells Expressed on T-cells as well as on B-lineage cells|
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This gene encodes a protein belonging to the leucine-richrepeat family of proteins, which are involved in diverse biologicalprocesses, including cell adhesion, cellular trafficking, andhormone-receptor interactions. This family member is a putativefour-pass transmembrane protein that plays a role in B celldevelopment. Defects in this gene cause autosomal dominantnon-Bruton type agammaglobulinemia, an immunodeficiency diseaseresulting from defects in B cell maturation. Multiple alternativelyspliced transcript variants, which encode the same protein, havebeen identified for this gene.
Olsen, J.V., et al. Cell 127(3):635-648(2006)Smits, G., et al. Mol. Immunol. 41(5):561-562(2004)Kubota, K., et al. FEBS Lett. 564 (1-2), 147-152 (2004) :Sawada, A., et al. J. Clin. Invest. 112(11):1707-1713(2003)Conley, M.E. J. Clin. Invest. 112(11):1636-1638(2003)
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