Mutations of the POR gene cause a variable degree of clinical symptoms due to impaired steroidogenesis. Additionally metabolic disorder in detoxication and drug metabolism are observed.
| 1. |
Hershkovitz E et al. (2008) Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
|
| 2. |
Biason-Lauber A et al. (1997) A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
|
| 3. |
Flück CE et al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
|
| 4. |
Huang N et al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
|
| 5. |
Peterson RE et al. (1985) Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.
|
| 6. |
Arlt W et al. (2004) Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
|
| 7. |
Sakaguchi M et al. (1984) Signal recognition particle is required for co-translational insertion of cytochrome P-450 into microsomal membranes.
|
| 9. |
Williamson L et al. (2006) Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.
|
| 10. |
OMIM.ORG article Omim 613571
|