|
Gene id |
56262 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
LRRC8A Gene UCSC Ensembl |
|
Aliases |
AGM5, LRRC8, SWELL1 |
|
Gene name |
leucine rich repeat containing 8 VRAC subunit A |
|
Alternate names |
volume-regulated anion channel subunit LRRC8A, leucine rich repeat containing 8 family member A, leucine-rich repeat-containing protein 8A, swelling protein 1, |
|
Gene location |
9q34.11 (128882111: 128918041) Exons: 10 NC_000070.6
|
|
Gene summary(Entrez) |
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 fou
|
|
OMIM |
608360 |
|
| Associated diseases |
References |
| Agammaglobulinemias | KEGG: H00085 |
| Development of spermatids | MIK: 29880644 |
| Male factor infertility | MIK: 29880644 |
| Cryptorchidism | MIK: 28606200 |
| Development of spermatids, Male infertility | MIK: 29880644 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29880644 |
Developmen
t of sperm
atids, Mal
e infertil
ity
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|