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 Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature and Colorectal Cancer 12. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding.
UniProtKB/Swiss-Prot Summary for POLE Gene
Participates in DNA repair and in chromosomal DNA replication.