Disease-gene associations mined from literature

Literature associating POLE and metaphyseal dysplasia

POLE [ENSP00000322570]

DNA polymerase epsilon catalytic subunit A; Catalytic component of the DNA polymerase epsilon complex . Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair . Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) synthesis following UV irradiation .

Synonyms:  POLE,  A0A087WW42,  A0A087WX51,  F5H1D6,  F5H7E4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM