Aptx - aprataxin Gene

About Aptx

Summary

Predicted to enable several functions, including hydrolase activity, acting on ester bonds; nucleic acid binding activity; and protein N-terminus binding activity. Predicted to be involved in DNA repair; regulation of protein stability; and response to hydrogen peroxide. Predicted to act upstream of or within DNA ligation. Predicted to be located in nucleolus and nucleoplasm. Predicted to be active in nucleus. Predicted to colocalize with chromatin. Human ortholog(s) of this gene implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy. Orthologous to human APTX (aprataxin). [provided by Alliance of Genome Resources, Apr 2022]