Alt. symbols: LRRC8 | KIAA1437 | FLJ10337 | SWELL1

Approved name: leucine rich repeat containing 8 VRAC subunit A
Alt. names: leucine rich repeat containing 8, leucine rich repeat containing 8 family member A

Location: 9q34.11: 128882133 - 128918039 (+)
Gene type: protein_coding, 5 transcripts.

Scores: LoFtool: 0.065600 | pLI: 0.91610468 | LOEUF: 0.347

HGNC: 19027

NCBI: 56262, RefSeq: NG_009630.1

Ensembl: ENSG00000136802.12

LRG_80 | Status: public

OMIM: 608360

Expression | ProteinAtlas

LRRC8A is a ubiquitously expressed gene that encodes a leucine-rich repeat (LRR)-containing protein, which is detected at higher levels on the surface of thymocytes than on other immune cells. It is an 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. LRRC8A is involved in B-cell development: required for the pro-B cell to pre-B cell transition. It may also play a role in lysosome homeostasis.

To date only one mutation in this gene has been reported. The patient exhibited congenital agammaglobulinemia, lack of B cells and minor facial anomalies (Sawada et al. 2003). The authors detected a genomic translocation between chromosomes 9 and 20 that resulted in truncation of the LRRC8A gene. This new form of autosomal dominant agammaglobulinemia is known as Agammaglobulinemia type 5 [MIM:613506]. In addition, the knockout Lrrc8a mouse model shows abnormal T-cell development and function, an d a modest block in B cell development but intact intrinsic B cell function. Lrrc8a(-/-) mice also had increased prenatal and postnatal mortality, growth retardation, and multiple tissue abnormalities. [Load More]