The Molecular Basis of Vitamin D-Dependent Rickets Type I

抄録

Vitamin D 1α-hydroxylase is a key enzyme for the vitamin D-calcium homeostasis. Recently, 1α-hydroxylase cDNA and gene were cloned. Human 1α-hydroxylase gene is located at chromosome 12q13.3. Several inactivating mutations in the 1α-hydroxylase gene were found in VDDR I patients, and it was established that 1α-hydroxylase gene is responsible for VDDR I. To date, various mutations spreading over all exons have been reported. The cloning of 1α-hydroxylase gene will further lead to the better understanding of vitamin D regulation in both normal and pathological states. In addition, 1α-hydroxylase knock-out mice, which is recently generated, would be a useful model animal for VDDR I [38, 39].