DISEASES

Disease-gene associations mined from literature

Literature associating POLI and Treacher Collins syndrome

POLI [ENSP00000462664]

Polymerase (DNA directed) 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. 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; Belongs to the DNA polymerase type-Y family.

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

Linkouts:  STRING  Pharos  UniProt  OMIM