Gene Symbol | PRIMPOL |
Entrez Gene ID | 201973 |
Full Name | primase and DNA directed polymerase |
Synonyms | CCDC111,MYP22,Primpol1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myopia 22, autosomal dominant, 615420 (3) |