The pola1 gene encodes the catalytic subunit of DNA polymerase alpha, which is a DNA-directed DNA polymerase enzyme. This protein forms the pol alpha complex with a primase subunit, possessing both RNA...[+]

The pola1 gene encodes the catalytic subunit of DNA polymerase alpha, which is a DNA-directed DNA polymerase enzyme. This protein forms the pol alpha complex with a primase subunit, possessing both RNA and DNA polymerase activities to initiate DNA replication by synthesizing RNA-DNA primers. The protein localizes to the nucleus during S-phase. It is maternally deposited into oocytes and is a component of the germ plasm, playing a role in embryonic DNA replication. [-]

             X-linked reticulate pigmentary disorder

          PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD