The molecular basis of vitamin D-dependent rickets type I.
Vitamin D 1alpha-hydroxylase is a key enzyme for the vitamin D-calcium homeostasis. Recently, 1alpha-hydroxylase cDNA and gene were cloned. Human 1alpha-hydroxylase gene is located at chromosome 12q13.3. Several inactivating mutations in the 1alpha-hydroxylase gene were found in VDDR I patients, and it was established that 1alpha-hydroxylase gene is responsible for VDDR I. To date, various mutations spreading over all exons have been reported. The cloning of 1alpha-hydroxylase gene will further lead to the better understanding of vitamin D regulation in both normal and pathological states. In addition, 1alpha-hydroxylase knock-out mice, which is recently generated, would be a useful model animal for VDDR I.
Kitanaka
S
S
Institute of Molecular and Cellular Biosciences, The University of Tokyo, Japan.
Takeyama
K
K
Murayama
A
A
Kato
S
S
D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics*; D000818:Animals; D002881:Chromosomes, Human, Pair 12; D003001:Cloning, Molecular; D005786:Gene Expression Regulation; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012279:Rickets / Q000235:genetics*; D014808:Vitamin D Deficiency / Q000235:genetics*
D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase