POLE4
Description
The POLE4 (DNA polymerase epsilon 4, accessory subunit) is a protein-coding gene located on chromosome 2.
POLE4 is a protein encoded by the POLE4 gene in humans. It is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.
POLE4 is an accessory component of the DNA polymerase epsilon complex, which is involved in both DNA repair and chromosomal DNA replication.
POLE4 is also known as YHHQ1, p12.
Associated Diseases
- endometrial cancer
- Hoyeraal-Hreidarsson syndrome
- primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- Fanconi anemia complementation group C
- Camurati-Engelmann disease
- MIRAGE syndrome
- cancer
- lymphopenia
- breast cancer
- osteopathia striata with cranial sclerosis
