Gene Symbol | POLE |
Entrez Gene ID | 5426 |
Full Name | DNA polymerase epsilon, catalytic subunit |
Synonyms | CRCS12,FILS,POLE1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Colorectal cancer, susceptibility to, 12}, 615083 (3); FILS syndrome, 615139 (3) |