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POLE / POLE1 is 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.
Gene Name: | polymerase (DNA directed), epsilon, catalytic subunit |
Synonyms: | POLE, POLE1, DNA polymerase II subunit A |
Target Sequences: | NM_006231 NP_006222.2 Q07864 |
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