Disease-gene associations mined from literature

Literature associating LRRC8C and megalencephalic leukoencephalopathy with subcortical cysts

LRRC8C [ENSP00000359483]

Leucine rich repeat containing 8 family, member C; Non-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. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.

Synonyms:  LRRC8C,  LOC101927933,  LOC102723361,  LRRC8Cp,  hLRRC8C ...

Linkouts:  STRING  Pharos  UniProt  OMIM