Leucine Rich Repeat Containing Protein 8A (LRRC8A)

LRRC8A 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.The deduced 811-amino acid protein shares 30% identity with rat densin-180.Within specific adult brain regions, highest expression was detected in amygdala and caudate nucleus.