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 (DNA Polymerase Epsilon, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLE include Colorectal Cancer 12 and Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature. Among its related pathways are Pyrimidine metabolism (KEGG) and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (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.