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Polymerase (DNA directed), alpha 1 catalytic subunit (POLA1)
- Target
- POLA1
- Molecular classification
- Enzyme, DNA Polymerase
01
Overview
POLA1 encodes the catalytic subunit of DNA polymerase alpha, a key enzyme complex required for the initiation of DNA replication in eukaryotic cells. It is essential for synthesizing RNA-DNA primers needed for both leading and lagging strand synthesis. Mutations or deficiencies in POLA1 are linked to X-linked reticulate pigmentary disorder (XLPDR) and X-linked intellectual disability (XLID).
- Other names
- p180POLANSX
02
Mechanism of action
Currently no approved drugs directly targeting this enzyme. Some small molecule ligands have been identified but none are clinically used against this target yet.
03
Biological functions
DNA replication initiationPrimer synthesisDNA repairRegulation of transcriptionPurine metabolismPyrimidine metabolism
04
Disease associations
X-linked reticulate pigmentary disorder (XLPDR)X-linked intellectual disability (XLID)Immune dysregulation
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