LRRC8C

[6] Volume-Regulated Anion Channels (VRACs) are crucial to the regulation of cell size by transporting chloride ions and various organic osmolytes, such as taurine or glutamate, across the plasma membrane,[7] and that is not the only function these channels have been linked to.

While LRRC8C is one of many proteins that can be part of VRAC, research has found that it is not as crucial to the activity of the channel in comparison to LRRC8A and LRRC8D.

[11] This is where the other LRRC8 proteins come in, such as LRRC8C, as the different composition of these subunits affects the range of specificity for VRACs.

The study showed that two children bearing different, monoallelic variants in LRRC8C [13] had severe multi-organ congenital disease (TIMES syndrome; see OMIM https://omim.org/entry/621056).

The genetic variants lead to constitutional activation of VRACs that become de-regulated and hyperactive.