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Gene id |
23236 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PLCB1 Gene UCSC Ensembl |
|
Aliases |
EIEE12, PI-PLC, PLC-154, PLC-I, PLC-beta-1, PLC154, PLCB1A, PLCB1B |
|
Gene name |
phospholipase C beta 1 |
|
Alternate names |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1, 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate, inositoltrisphosphohydrolase, monophosphatidylinositol phosphodiesterase, phosphoinositidase C, phosphoinositide phospholipase C, phospholipase C,, |
|
Gene location |
20p12.3 (8132265: 8884899) Exons: 33 NC_000020.11
|
|
Gene summary(Entrez) |
The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction
|
|
OMIM |
607120 |
|
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| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Role in acrosome reaction rate | MIK: 11464583 |
| Fertilization rate | MIK: 11464583 |
| Embryo development rate | MIK: 11464583 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 11464583 |
Role in ac
rosome rea
ction rate
, fertiliz
ation rate
, and embr
yo develop
ment rate
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 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 |
|