DefinitionThis section has been translated automatically.
The POLD1 gene (POLD1 stands for "DNA Polymerase Delta 1, Catalytic Subunit") is a protein-coding gene located on chromosome 19q13.3.
The POLD1 gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. This DNA polymerase has both polymerase and 3'-5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for the POLD1 gene. A pseudogene of this gene is located on the long arm of chromosome 6.
General informationThis section has been translated automatically.
Diseases associated with POLD1 include:
- Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome (OMIM: 615381)
- As well as
- Colorectal cancer, susceptibility to, 10 (OMIM: 612591).
LOF mutation in POLD1 leads to immunodeficiency syndrome (CID ) (Conde CD et al. 2019; Cui Y et al. 2020).
Related signaling pathways include telomere C-strand synthesis (lagging strand) and transcription-coupled nucleotide excision repair (TC-NER).
As a catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complex (Pol-delta4 complex), it plays a critical role in high-fidelity genome replication, including lagging strand synthesis and repair.
Together with DNA polymerase kappa, DNA polymerase delta performs about half of the nucleotide excision repair (NER) synthesis after UV irradiation. Under conditions of DNA replication stress, it can catalyze the repair of broken replication forks by break-induced replication (BIR) in the presence of POLD3 and POLD4.
