title: Genetics of vitamin D biosynthesis and its disorders.
abstract: The principal hormone regulator of bone mineralization is vitamin D, which must be activated by a metabolic pathway consisting of a 25-hydroxylase and a 1alpha-hydroxylase to yield 1,25 (OH)(2)D. The hormonal regulation of vitamin D activation is at the level of the 1alpha-hydroxylase. We review the biology of vitamin D, the biochemistry of its activation and the molecular biology of the vitamin D-metabolizing enzymes. Recent advances have resulted in the cloning of the human vitamin D 1alpha-hydroxylase and the identification of mutations in its gene that cause Vitamin D Dependent Rickets type I.
authors.affiliation: Department of Pediatrics and the Metabolic Research Unit, University of California, San Francisco, CA 94143-0978, USA.
authors.forename: W L
authors.initials: WL
authors.lastname: Miller
authors.forename: A A
authors.initials: AA
authors.lastname: Portale
mesh_terms: D003577:Cytochrome P-450 Enzyme System / Q000378:metabolism; D004032:Diet / Q000009:adverse effects*; D006801:Humans; D008928:Mitochondria / Q000378:metabolism; D014807:Vitamin D / Q000096:biosynthesis* / Q000235:genetics*; D014808:Vitamin D Deficiency / Q000209:etiology* / Q000235:genetics*
chemical_list: D014807:Vitamin D; D003577:Cytochrome P-450 Enzyme System