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LRRC8A

Official Full Name
leucine rich repeat containing 8 VRAC subunit A
Organism
Homo sapiens
GeneID
56262
Background
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]
Synonyms
AGM5; LRRC8; SWELL1; HsLRRC8A;

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