|
Gene id |
22990 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PCNX1 Gene UCSC Ensembl |
|
Aliases |
PCNX, PCNXL1, pecanex |
|
Gene name |
pecanex 1 |
|
Alternate names |
pecanex-like protein 1, pecanex homolog 1, |
|
Gene location |
14q24.2 (70907442: 71115381) Exons: 38 NC_000011.10
|
|
Gene summary(Entrez) |
This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2
|
|
OMIM |
617655 |
|
| Associated diseases |
References |
| Celiac disease | GAD: 19240061 |
| May play a role in spermatogenesis | MIK: 15777640 |
| Cryptorchidism | MIK: 21412036 |
| Spermatogenic defects | MIK: 15777640 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 15777640 |
May play a
role in s
permatogen
esis
|
|
|
|
Male infertility |
|
Show abstract |
| 21412036 |
Cryptorchi
dism
|
|
|
23 (4 controls,
19 cases)
|
Male infertility |
GSE25518 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 |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|