Health / Medical Topics |
POLE wt Allele
Human POLE wild-type allele is located in the vicinity of 12q24.3 and is approximately 213 kb in length. This allele, which encodes DNA polymerase epsilon catalytic subunit A protein, plays a role in both DNA base-excision repair and DNA replication. Mutation of the gene may be associated with both increased susceptibility to colorectal malignancies and facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome. (NCI Thesaurus)
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