Rare SNP in the HELB gene interferes with RPA interaction and cellular function of HELB
Bertha Osei, Benjamin H May, Joseph S Beard, Matthew D Thompson, Duah Alkam, Maroof Khan Zafar, Erik Bergstrom, Stephanie D. Byrum, Eric J. Enemark, Kirk L. West, Alicia K. Byrd
The paper identifies a rare SNP in the HELB gene that disrupts its interaction with RPA and affects age at natural menopause through impaired DNA repair function.
NAR Molecular Medicine · Mar 29, 2025Peer-reviewedBiochemistry