Gene: LRRC8A

Alternate names for this Gene: AGM5|LRRC8|SWELL1

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.11

Description of this Gene: leucine rich repeat containing 8 VRAC subunit A

Type of Gene: protein-coding