Disease-gene associations mined from literature

Literature associating LRRC8A and megalencephalic leukoencephalopathy with subcortical cysts

LRRC8A [ENSP00000259324]

Leucine rich repeat containing 8 family, member A; 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. 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. 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).

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

Linkouts:  STRING  Pharos  UniProt  OMIM