Abstract
Combined partial deficiency of 17alpha-hydroxylase and 21-hydroxylase is well-described, but patients' genes for these enzymes lack mutations. Recent work has identified mutations in the gene for P450 oxidoreductase (POR) in such patients. POR-deficient individuals have a broad range of disorders, from infants with congenital malformations to women with the polycysic ovary syndrome. POR transfers electrons to all microsomal P450 enzymes: its deficiency affects steroidogenesis, drug metabolism and other processes.
Publication types
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Animals
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Humans
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Metabolism, Inborn Errors / enzymology*
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Metabolism, Inborn Errors / genetics*
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Mutation
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NADPH-Ferrihemoprotein Reductase / deficiency*
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NADPH-Ferrihemoprotein Reductase / genetics
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Receptor Protein-Tyrosine Kinases / genetics
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Receptor, Fibroblast Growth Factor, Type 2
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Receptors, Fibroblast Growth Factor / genetics
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Steroid 17-alpha-Hydroxylase / genetics
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Steroid 21-Hydroxylase / genetics
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Steroids / biosynthesis*
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Structure-Activity Relationship
Substances
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Receptors, Fibroblast Growth Factor
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Steroids
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Steroid 21-Hydroxylase
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Steroid 17-alpha-Hydroxylase
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NADPH-Ferrihemoprotein Reductase
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FGFR2 protein, human
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Receptor Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 2