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 agammaglobulinemia 5 and agammaglobulinemia, non-bruton type. GO annotations related to this gene include anion channel activity. An important paralog of this gene is LRRC8D.
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 (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity).