LRRC8A

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Leucine-rich repeat-containing protein 8A is a protein that in humans is encoded by the LRRC8A gene.[5] 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).[6] 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.

AliasesLRRC8A, 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
End128,918,039 bp[1]
Quick facts Identifiers, Aliases ...
LRRC8A
Identifiers
AliasesLRRC8A, 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 IDsOMIM: 608360; MGI: 2652847; HomoloGene: 18617; GeneCards: LRRC8A; OMA:LRRC8A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127244
NM_001127245
NM_019594

NM_177725

RefSeq (protein)

NP_001120716
NP_001120717
NP_062540

NP_808393

Location (UCSC)Chr 9: 128.88 – 128.92 MbChr 2: 30.13 – 30.15 Mb
PubMed search[3][4]
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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.[8][9] 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.[10] This is where the other LRRC8 proteins come in, as the different composition of these subunits affects the range of specificity for VRACs.[11][12]

The transmembrane portion of LRRC8 proteins are similar to those in Pannexins.[13] LRRC8A alone can form a hexameric VRAC, for which the cyro-EM structure has been determined in its mice and human versions.[14][15][16]

In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5.[17]

References

Further reading

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