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Gene id |
5209 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
PFKFB3 Gene UCSC Ensembl |
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Aliases |
IPFK2, PFK2, iPFK-2 |
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Gene name |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
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Alternate names |
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3, 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase, 6PF-2-K/Fru-2,6-P2ase 3, 6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme, PFK/FBPase 3, fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase, , |
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Gene location |
10p15.1 (6144917: 6254647) Exons: 20 NC_000071.6
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Gene summary(Entrez) |
The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-p
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OMIM |
605319 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Alzheimer's disease | GAD: 16385451 |
| Localized mainly in the acrosomal region of the sperm head and in the mid-piece of the flagellum | MIK: 19595670 |
| Cryptorchidism | MIK: 28606200 |
| Localized mainly in the acrosomal region of the sperm head and in the mid-piece of the flagellum | MIK: 19595670 |
| Teratozoospermia | MIK: 17327269 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19595670 |
Localized
mainly in
the acroso
mal region
of the sp
erm head a
nd in the
mid-piece
of the fla
gellum
|
|
|
|
Male infertility |
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Show abstract |
| 17327269 |
Teratozoos
permia
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|
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19 (6 controls
, 13 cases)
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Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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Show abstract |
| 28606200 |
Cryptorchi
dism
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|
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Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
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Male infertility |
MeDIP-Seq
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Show abstract |
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