|
Gene id |
11196 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SEC23IP Gene UCSC Ensembl |
|
Aliases |
MSTP053, P125, P125A |
|
Gene name |
SEC23 interacting protein |
|
Alternate names |
SEC23-interacting protein, |
|
Gene location |
10q26.11-q26.12 (119892572: 119944657) Exons: 16 NC_000012.12
|
|
Gene summary(Entrez) |
This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex.
|
|
OMIM |
617852 |
|
| Associated diseases |
References |
| Carotid artery diseases | GAD: 17903303 |
| Celiac disease | GAD: 19240061 |
| Alzheimer's disease | GAD: 16385451 |
| Important role in spermiogenesis | MIK: 21640725 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Important role in spermiogenesis | MIK: 21640725 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21640725 |
Important
role in sp
ermiogenes
is
|
|
|
|
Male infertility |
|
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 |
|