|
Gene id |
5078 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PAX4 Gene UCSC Ensembl |
|
Aliases |
KPD, MODY9 |
|
Gene name |
paired box 4 |
|
Alternate names |
paired box protein Pax-4, paired box gene 4, paired domain gene 4, |
|
Gene location |
7q32.1 (127618141: 127610291) Exons: 3 NC_000007.14
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|
Gene summary(Entrez) |
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and c
|
|
OMIM |
167413 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04950 | Maturity onset diabetes of the young | |
|
| Associated diseases |
References |
| Maturity onset diabetes of the young | KEGG:H00410 |
| Ketosis-prone diabetes mellitus | KEGG:H01224 |
| Maturity onset diabetes of the young | KEGG:H00410 |
| Ketosis-prone diabetes mellitus | KEGG:H01224 |
| type 2 diabetes mellitus | PMID:17426099 |
| type 2 diabetes mellitus | PMID:12604352 |
| type 1 diabetes mellitus | PMID:15509590 |
| type 1 diabetes mellitus | PMID:15834548 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
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