LRRC8A, Official Symbol LRRC8Aprovided by HGNC Official Full Name leucine rich repeat containing 8 VRAC subunit Aprovided by HGNC Primary source HGNC:HGNC:19027 See related Ensembl:ENSG00000136802 MIM:608360; AllianceGenome:HGNC:19027 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGM5; LRRC8; SWELL1; HsLRRC8A Summary 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, Jul 2008] Expression Ubiquitous expression in brain (RPKM 27.9), esophagus (RPKM 16.9) and 25 other tissues See more Orthologs mouse all