Leucine-rich repeat-containing protein 8C is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the LRRC8C

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

. Researchers have found out that this protein, along with the other LRRC8 proteins

LRRC8A Leucine-rich repeat-containing protein 8A is a protein that in humans is encoded by the ''LRRC8A'' gene. Researchers have found out that this protein, along with the other LRRC8 proteins LRRC8B, LRRC8C, LRRC8D, and LRRC8E, is a subunit of the het ...

LRRC8B Leucine-rich repeat-containing protein 8B is a protein that in humans is encoded by the LRRC8B gene. Researchers have found out that this protein, along with the other LRRC8 proteins LRRC8A, LRRC8C, LRRC8D, and LRRC8E, is sometimes a subunit of the ...

, LRRC8D, and LRRC8E, is sometimes a subunit of the heteromer protein

Volume-Regulated Anion Channel 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, and that is not the only function these chan ...

. 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, 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

and LRRC8D. However, while we know that

and LRRC8D are necessary for VRAC function, other studies have found that they are not sufficient for the full range of usual VRAC activity. 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. In fact, a research study published in December 2024 seems to contradict the "non-crucial" role of LRRC8C and rather suggest multiple roles in different cell types. The study showed that two children bearing different, monoallelic variants in LRRC8C 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. In addition to its role in VRACs, the LRRC8 protein family is also associated with

agammaglobulinemia Hypogammaglobulinemia is an immune system disorder in which not enough gamma globulins are produced in the blood (thus '' hypo-'' + ''gamma'' + '' globulin'' + '' -emia''). This results in a lower antibody count, which impairs the immune system, ...

-5.

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Further reading