LRRC8A

LRRC8A
Identifiers
Aliases	LRRC8A, AGM5, LRRC8, SWELL1, leucine-rich repeat containing 8 family member A, leucine rich repeat containing 8 family member A, leucine rich repeat containing 8 VRAC subunit A, HsLRRC8A
External IDs	OMIM: 608360; MGI: 2652847; HomoloGene: 18617; GeneCards: LRRC8A; OMA:LRRC8A - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	128,918,039 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	30,153,802 bp
RNA expression pattern
	Top expressed in
	gingival epithelium; ; nasal epithelium; ; decidua; ; visceral pleura; ; external globus pallidus; ; cardiac muscle tissue of right atrium; ; pars reticulata; ; entorhinal cortex; ; Brodmann area 23; ; skin of arm;
	Top expressed in
	ankle joint; ; superior surface of tongue; ; gallbladder; ; ciliary body; ; secondary oocyte; ; cardiac muscle tissue of left ventricle; ; retinal pigment epithelium; ; decidua; ; gastrula; ; choroid plexus of fourth ventricle;
	More reference expression data
	n/a
Gene ontology
Molecular function	anion channel activity; protein binding; volume-sensitive anion channel activity; identical protein binding;
Cellular component	integral component of membrane; cell surface; ion channel complex; membrane; cytoplasm; plasma membrane; integral component of plasma membrane;
Biological process	pre-B cell differentiation; response to osmotic stress; cell volume homeostasis; cell differentiation; ion transport; anion transport; regulation of anion transport; anion transmembrane transport; signal transduction; transmembrane transport; transport; inorganic anion transport; taurine transport; aspartate transmembrane transport; protein hexamerization;
	Sources:Amigo / QuickGO
Orthologs
	56262
	241296
	ENSG00000136802
	ENSMUSG00000007476
	Q8IWT6
	Q80WG5
	NM_001127244; NM_001127245; NM_019594
	NM_177725
	NP_001120716; NP_001120717; NP_062540
	NP_808393
	Wikidata
View/Edit Human	View/Edit Mouse

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 heteromer protein volume-regulated anion channel (VRAC). 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 LRRC8A is one of many proteins that can be part of VRAC, it is the most important subunit for the channel’s ability to function. However, while we know it is necessary for VRAC function, other studies have found that it is not sufficient for the full range of usual VRAC activity. This is where the other LRRC8 proteins come in, as the different composition of these subunits affects the range of specificity for VRACs.

The transmembrane portion of LRRC8 proteins are similar to those in Pannexins. LRRC8A alone can form a hexameric VRAC, for which the cyro-EM structure has been determined in its mice and human versions.

In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5.