Title : CYP3A4 mutation causes vitamin D-dependent rickets type 3.

Pub. Date : 2018 May 1

PMID : 29461981






6 Functional Relationships(s)
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1 CYP3A4 mutation causes vitamin D-dependent rickets type 3. Vitamin D cytochrome P450 family 3 subfamily A member 4 Homo sapiens
2 In vitro, the mutant CYP3A4 oxidized 1,25-dihydroxyvitamin D with 10-fold greater activity than WT CYP3A4 and 2-fold greater activity than CYP24A1, the principal inactivator of vitamin D metabolites. Vitamin D cytochrome P450 family 3 subfamily A member 4 Homo sapiens
3 In vitro, the mutant CYP3A4 oxidized 1,25-dihydroxyvitamin D with 10-fold greater activity than WT CYP3A4 and 2-fold greater activity than CYP24A1, the principal inactivator of vitamin D metabolites. Vitamin D cytochrome P450 family 3 subfamily A member 4 Homo sapiens
4 As CYP3A4 mutations have not previously been linked to rickets, these findings provide insight into vitamin D metabolism and demonstrate that accelerated inactivation of vitamin D metabolites represents a mechanism for vitamin D deficiency. Vitamin D cytochrome P450 family 3 subfamily A member 4 Homo sapiens
5 As CYP3A4 mutations have not previously been linked to rickets, these findings provide insight into vitamin D metabolism and demonstrate that accelerated inactivation of vitamin D metabolites represents a mechanism for vitamin D deficiency. Vitamin D cytochrome P450 family 3 subfamily A member 4 Homo sapiens
6 As CYP3A4 mutations have not previously been linked to rickets, these findings provide insight into vitamin D metabolism and demonstrate that accelerated inactivation of vitamin D metabolites represents a mechanism for vitamin D deficiency. Vitamin D cytochrome P450 family 3 subfamily A member 4 Homo sapiens