|
Gene id |
23315 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SLC9A8 Gene UCSC Ensembl |
|
Aliases |
NHE-8, NHE8 |
|
Gene name |
solute carrier family 9 member A8 |
|
Alternate names |
sodium/hydrogen exchanger 8, Na(+)/H(+) exchanger 8, solute carrier family 9 (sodium/hydrogen exchanger), solute carrier family 9 (sodium/hydrogen exchanger), member 8, solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8, |
|
Gene location |
20q13.13 (49812712: 49892241) Exons: 21 NC_000003.12
|
|
Gene summary(Entrez) |
Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral N
|
|
OMIM |
612730 |
|
| Associated diseases |
References |
| Globozoospermia | MIK: 28476888 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Globozoospermia | MIK: 28476888 |
| Male infertility | MIK: 28476888 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28476888 |
Globozoosp
ermia, Mal
e infertil
ity
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|