Disease-gene associations mined from literature

Literature associating PRIMPOL and mitochondrial DNA depletion syndrome 14

PRIMPOL [ENSP00000313816]

Coiled-coil domain-containing protein 111; DNA primase and DNA polymerase able to initiate de novo DNA synthesis using dNTPs. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Involved in translesion synthesis via its primase activity by mediating uninterrupted fork progression after programmed or damage-induced fork arrest and by reinitiating DNA synthesis after dNTP depletion. Required for mitochondrial DNA (mtDNA) synthesis, suggesting it may be involved in DNA tolerance during the replication of mitochondrial DNA. Has non-overlapping function with POLH.

Synonyms:  PRIMPOL,  D3DP56,  D6R908,  D6R971,  FLJ33167 ...

Linkouts:  STRING  Pharos  UniProt