Rare SNP in the HELB gene interferes with RPA interaction and cellular function of HELB
B. Osei, B. H. May, C. M. Stiefel, K. L. West, M. K. Zafar, M. D. Thomoson, E. Bergstrom, J. W. Leung, E. J. Enemark, A. 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.
bioRxiv · Feb 27, 2024Biochemistry