The Molecular Basis of Vitamin D-Dependent Rickets Type I

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 establis...

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Bibliographic Details
Published in:ENDOCRINE JOURNAL 2001, Vol.48(4), pp.427-432
Main Authors: KITANAKA, SACHIKO, TAKEYAMA, KEN-ICHI, MURAYAMA, AKIKO, KATO, SHICEAKI
Format: Article
Language:English
Subjects:
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics
Animals
Chromosomes, Human, Pair 12
Cloning, Molecular
Gene Expression Regulation
Genetic Linkage
Humans
Mutation
Phenotype
Rickets - genetics
Vitamin D Deficiency - genetics
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Summary: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].
ISSN:0918-8959
1348-4540
DOI:10.1507/endocrj.48.427