Automated description from the Alliance of Genome Resources (Release 7.4.0)
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).
This site uses cookies.
Some cookies are essential for site operations and others help us analyze use and utility of our web site.
Please refer to our
privacy policy
for more information.