TOPBP1


DNA topoisomerase 2-binding protein 1 is an enzyme that in humans is encoded by the TOPBP1 gene.

Function

This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands.

Meiotic silencing

In mammals, surveillance mechanisms remove meiotic cells in which chromosome synapsis is defective. One such surveillance mechanism is meiotic silencing, the transcriptional silencing of genes on asynapsed chromosomes. TOPBP1, a DNA damage response protein, has a crucial role in meiotic sex chromosome silencing.

Interactions

TOPBP1 has been shown to interact with:
This gene may be involved in the development of ovarian and breast cancer.
Mutations in TOPBP1 cause Idiopathic pulmonary arterial hypertension.