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Details of PNKP gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PNKP | --- | Q96T60 | PNKP_HUMAN | 11284
| ENSG00000039650
| Bifunctional polynucleotide phosphatase/kinase
Polynucleotide 3'-phosphatase
Polynucleotide 5'-hydroxyl-kinase | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Epileptic encephalopathy, early infantile, 10 (EIEE10) [MIM:613402]: A disease characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613402 |
