Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin.
Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin.
Adam Zalewski,N. Ma,3 Authors,A. Pandey
2016 · DOI: 10.1210/jc.2016-2124
Journal of Clinical Endocrinology and Metabolism · 38 Citations
TLDR
This is the first report of mutations in CYP27B1 causing VDDR-1 by affecting protein-protein interactions with FDX1 that results in reduced CYP26B1 activities, and severe loss of activity of CYP 27B1 by both mutations.