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POLE

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.
Protein class

Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Spermatocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Low cell line specificity

Interaction

Component of the DNA polymerase epsilon complex consisting of four subunits: the catalytic subunit POLE and the accessory subunits POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1.

Molecular function

DNA-binding, DNA-directed DNA polymerase, Hydrolase, Nucleotidyltransferase, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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