A Novel Mutation in Helix 12 of the Vitamin D Receptor Impairs Coactivator Interaction and Causes Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets without Alopecia

Peter J. Malloy, Rong Xu, Lihong Peng, Pamela A. Clark, David Feldman
2002 Molecular Endocrinology  
Abbreviations: AF-2, Activation function-2 domain; DBD, DNA binding domain; DRIP, vitamin D receptor-interacting protein; E420K, a highly conserved glutamic acid at amino acid 420 to lysine; GST, glutathione-S-transferse; HVDRR, hereditary vitamin D-resistant rickets; LBD, ligand binding domain; 1,25-(OH) 2 D 3 , 1,25-dihydroxyvitamin D; RFLP, restriction fragment length polymorphism; RXR, retinoid X receptor; SRC, steroid receptor coactivator; VDR, vitamin D receptor; VDRE, vitamin D response elements.
doi:10.1210/me.2002-0152 pmid:12403843 fatcat:aul3zw6irnbxfhg7fqim46ozne