Functional characterization of germline variants in the TMEM127 tumor suppressor reveals novel insights into its membrane topology and trafficking
Shahida K. Flores, Yilun Deng, Ming Soon Cheng, Xingyu Zhang, Sifan Tao, Afaf Saliba, Irene Chu, Exing Wang, Ricardo C.T. Aguiar, Patricia L. M. Dahia
The paper functionally characterizes germline TMEM127 variants, identifying pathogenic mutations and revealing a fourth transmembrane domain and an endocytic motif.
Journal of the Endocrine Society · Apr 1, 2020Peer-reviewedGenetics