DISEASES

Disease-gene associations mined from literature

Literature on POLI

POLI [ENSP00000462664]

DNA polymerase iota; Error-prone DNA polymerase specifically involved in DNA repair . Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls (PubMed:11013228, PubMed:11387224, PubMed:14630940, PubMed:15199127). Favors Hoogsteen base-pairing in the active site . Inserts the correct base with high-fidelity opposite an adenosine template . Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine . May play a role in hypermutation of immunogobulin genes . Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but may not have lyase activity . ECO:0000269|PubMed:11251121, ECO:0000269|PubMed:11387224, ECO:0000269|PubMed:12410315, ECO:0000269|PubMed:14630940,; Belongs to the DNA polymerase type-Y family.

Synonyms:  POLI,  J3KQ09,  J3KRG0,  J3KRS8,  J3KSW2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM