Aliases for LRRC8A Gene
External Ids for LRRC8A Gene
Previous HGNC Symbols for LRRC8A Gene
Previous GeneCards Identifiers for LRRC8A Gene
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]
GeneCards Summary for LRRC8A Gene
LRRC8A (Leucine Rich Repeat Containing 8 Family, Member A) is a Protein Coding gene. Diseases associated with LRRC8A include autosomal agammaglobulinemia and agammaglobulinemia 5. GO annotations related to this gene include anion channel activity. An important paralog of this gene is MFHAS1.
UniProtKB/Swiss-Prot for LRRC8A Gene
Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. It is unclear whether LRRC8A constitutes a pore-forming subunit or whether it is closely associated with the pore and mediates channel properties such as ion selectivity. Involved in B-cell development: required for the pro-B cell to pre-B cell transition. Also required for T-cell development.