LRRC8A
Sign in to saveAlso known as 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
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.
Gene data
LRRC8A- Name
- leucine rich repeat containing 8 VRAC subunit A
- Type
- protein-coding
- Position
- 128,882,133–128,918,042 (+)
- Aliases
- AGM5, HsLRRC8A, LRRC8, SWELL1
- Ensembl
- ENSG00000136802
- RefSeq RNA
- NM_001127244.2, NM_001127245.2, NM_019594.4, XM_005252095.3, XM_005252096.5
- RefSeq protein
- NP_001120716.1, NP_001120717.1, NP_062540.2, XP_005252152.1, XP_005252153.1
This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
leucine rich repeat containing 8 VRAC subunit A
- Symbol
- LRRC8A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:128,882,120-128,918,042
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 6 more facts
- HomoloGene ID
- 18617
- exact match
- identifiers.org/ncbigene/56262
- genomic start
- 128882133
- genomic end
- 131680318
- cytogenetic location
- 9q34.11
- Commons category
- LRRC8A
Sources (4)
via Wikidata · CC0
~1 min read
Article
2 sectionsContents
- References
- Further reading
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.