{"symbol":"LRRC8A","synonyms":["SWELL1","AGM5","LRRC8"],"name":"leucine rich repeat containing 8 family, member A","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, Jul 2008]","ncbiEntrezGeneId":56262,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/56262","proteins":[{"symbol":"LRC8A_HUMAN","href":"/api/1.0/protein/LRC8A_HUMAN"}],"hgncRootFamilies":[]}