|
Gene id |
259230 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SGMS1 Gene UCSC Ensembl |
|
Aliases |
MOB, MOB1, SMS1, TMEM23, hmob33 |
|
Gene name |
sphingomyelin synthase 1 |
|
Alternate names |
phosphatidylcholine:ceramide cholinephosphotransferase 1, medulla oblongata-derived protein, protein Mob, transmembrane protein 23, |
|
Gene location |
10q11.23 (50623955: 50305599) Exons: 15 NC_000006.12
|
|
Gene summary(Entrez) |
The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]
|
|
OMIM |
611573 |
|
|
|
|
| Associated diseases |
References |
| Alzheimer's disease | GAD: 16385451 |
| Male factor infertility | MIK: 27788151 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 27788151 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 27788151 |
Male infer
tility
|
|
|
|
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 |
|