The POLE gene (POLE stands for: DNA Polymerase Epsilon, Catalytic Subunit) is a protein-coding gene located on chromosome 12q24.33. The catalytic subunit of DNA polymerase epsilon is involved in DNA repair and replication of chromosomal DNA.
Mutations in this gene have been associated with:
- colorectal cancer 12
- and
- facial dysmorphism, immunodeficiency, livedo and short stature (Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature/FILS/ Orphanet58).