PRIMPOL gene

primase and DNA directed polymerase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Myopia 22, autosomal dominant

From UniProt:

Myopia 22, autosomal dominant (MYP22): A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. [MIM:615420]

Cytogenetic Location: 4q35.1, which is the long (q) arm of chromosome 4 at position 35.1

Molecular Location: base pairs 184,649,613 to 184,694,959 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q35.1, which is the long (q) arm of chromosome 4 at position 35.1
  • CCDC111
  • MYP22
  • Primpol1