Aliases for PRIMPOL Gene
External Ids for PRIMPOL Gene
Previous HGNC Symbols for PRIMPOL Gene
Previous GeneCards Identifiers for PRIMPOL Gene
This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
GeneCards Summary for PRIMPOL Gene
PRIMPOL (Primase And DNA Directed Polymerase) is a Protein Coding gene. Diseases associated with PRIMPOL include Myopia 22, Autosomal Dominant and Myopia. GO annotations related to this gene include chromatin binding and DNA-directed DNA polymerase activity.
UniProtKB/Swiss-Prot for PRIMPOL Gene
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.