Aliases for POLE Gene
External Ids for POLE Gene
Previous GeneCards Identifiers for POLE Gene
This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
GeneCards Summary for POLE Gene
POLE (Polymerase (DNA Directed), Epsilon, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLE include colorectal cancer susceptibility 12 and colorectal cancer 12. Among its related pathways are Cell Cycle, Mitotic and Metabolism. GO annotations related to this gene include nucleic acid binding and chromatin binding.
UniProtKB/Swiss-Prot for POLE Gene
Participates in DNA repair and in chromosomal DNA replication