Protein Name | polynucleotide kinase 3'- phosphatase |
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Organism | Mus musculus |
Gene ID | 59047 |
Gene Symbol | Pnkp |
UniProt | G5E8N7 (G5E8N7_MOUSE), E9Q9A5 (E9Q9A5_MOUSE) |
Relationships |
Total Number of functionally related compound(s) :
9
Total Number of Articles : 8 |
Description |
polynucleotide kinase 3'- phosphatase |
Gene Summary |
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in DNA damage response and protein K63-linked ubiquitination. Part of SCF ubiquitin ligase complex. Is active in site of double-strand break. Is expressed in cerebellum; cerebral cortex; liver; and spleen. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2B2; ataxia-oculomotor apraxia type 4; and microcephaly, seizures, and developmental delay. Orthologous to human PNKP (polynucleotide kinase 3'-phosphatase). [provided by Alliance of Genome Resources, Jun 2025] |
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