Aliases for POLE Gene
External Ids 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 12 and fils syndrome. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include chromatin binding and 4 iron, 4 sulfur cluster binding.
UniProtKB/Swiss-Prot for POLE Gene
Participates in DNA repair and in chromosomal DNA replication