Aliases for POLD4 Gene
External Ids for POLD4 Gene
Previous GeneCards Identifiers for POLD4 Gene
This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
GeneCards Summary for POLD4 Gene
POLD4 (DNA Polymerase Delta 4, Accessory Subunit) is a Protein Coding gene. Diseases associated with POLD4 include Bloom Syndrome and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (GO) annotations related to this gene include DNA-directed DNA polymerase activity. An important paralog of this gene is ENSG00000256514.
UniProtKB/Swiss-Prot Summary for POLD4 Gene
As a component of the tetrameric DNA polymerase delta complex (Pol-delta4), plays a role in high fidelity genome replication and repair. Within this complex, increases the rate of DNA synthesis and decreases fidelity by regulating POLD1 polymerase and proofreading 3' to 5' exonuclease activity (PubMed:16510448, PubMed:19074196, PubMed:20334433). Pol-delta4 participates in Okazaki fragment processing, through both the short flap pathway, as well as a nick translation system (PubMed:24035200). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR), a mechanism that may induce segmental genomic duplications of up to 200 kb (PubMed:24310611). Involved in Pol-delta4 translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites (PubMed:19074196). Its degradation in response to DNA damage is required for the inhibition of fork progression and cell survival (PubMed:24022480).