| Gene Symbol |
LRRC8A
|
| Entrez Gene |
56262
|
| Alt Symbol |
AGM5, LRRC8, SWELL1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
leucine rich repeat containing 8 family, member A
|
| Other Description |
leucine-rich repeat-containing protein 8A|swelling protein 1|volume-regulated anion channel subunit LRRC8A
|
| Swissprots |
Q8NCI0 Q9P2B1 Q8IWT6 Q6UXM2
|
| Accessions |
EAW87842 EAW87843 Q8IWT6 AB037858 BAA92675 AK001199 BAA91549 AK024649 AK027495 BAB55153 AK074723 BAC11161 AK123611 AK289842 BAF82531 AY143166 AAN18279 AY358286 AAQ88653 BC000775 BC051322 AAH51322 BX376144 CA446287 DA243590 XM_005252095 XP_005252152 XM_005252096 XP_005252153 XM_006717186 XP_006717249 XM_011518863 XP_011517165 XM_011518864 XP_011517166 XM_011518865 XP_011517167 NM_001127244 NP_001120716 NM_001127245 NP_001120717 NM_019594 NP_062540
|
| Function |
Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. It is unclear whether LRRC8A constitutes a pore-forming subunit or whether it is closely associated with the pore and mediates channel properties such as ion selectivity. Involved in B-cell development: required for the pro-B cell to pre-B cell transition. Also required for T-cell development. {ECO:0000269|PubMed:14660746, ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24790029}.
|
| Subcellular Location |
Cell membrane {ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029}; Multi- pass membrane protein {ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029}.
|
| Tissue Specificity |
Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells. {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:14660746}.
|