DISEASES

Disease-gene associations mined from literature

LRRC8A disease associations

LRRC8A [ENSP00000259324]

Volume-regulated anion channel subunit LRRC8A; 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 (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731, PubMed:29769723). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). Mediates efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress . LRRC8A and LRRC8D are required for the uptake of the drug cisplatin . 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, PubMed:28193731). Can form functional channels by itself (in vitro) . Involved in B-cell development: required for the pro-B cell to pre-B cell transition . Also required for T-cell development (By similarity). May play a role in lysosome homeostasis . ECO:0000269|PubMed:14660746, ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26530471, ECO:0000269|PubMed:26824658, ECO:0000269|PubMed:28193731,

Synonyms:  LRRC8A,  LRRC8Ap,  hLRRC8A,  A0A024R892,  Q8IWT6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM