NADPH-Cytochrome P450-Reduktase
Das POR-Gen kodiert ein Coenzym der Steroidsynthese im zytoplasmatischen Retikulum. Von diesem Enzym hängt die Wirkung der Enzyme CYP21A2 und CYP17A1 ab. Mutationen verursachen das autosomal rezessive Antley-Bixler-Syndrom mit häufigen Genitalfehlbildungen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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.
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2. |
Adachi M et al. (2006) POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.
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3. |
Fukami M et al. (2005) Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
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4. |
None (1986) Congenital adrenal hyperplasia.
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5. |
Shephard EA et al. (1989) Isolation of a human cytochrome P-450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2.
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6. |
Arlt W et al. (2004) Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
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7. |
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.
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8. |
Huang N et al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
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9. |
Flück CE et al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
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10. |
Hurley ME et al. (2004) Antley-Bixler syndrome with radioulnar synostosis.
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11. |
Otto DM et al. (2003) Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis.
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12. |
Kelley RI et al. (2002) Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
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13. |
Shen AL et al. (2002) Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase.
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14. |
Reardon W et al. (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
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15. |
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.
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16. |
NCBI article
NCBI 5447
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17. |
OMIM.ORG article
Omim 124015
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18. |
Orphanet article
Orphanet ID 117944
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19. |
Wikipedia Artikel
Wikipedia DE (NADPH-Cytochrom-P450-Oxidoreduktase)
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Update: 14. August 2020