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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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Antley-Bixler-Syndrom 1
POR
Gestörte Steroidsynthese aufgrund eines POR-Mangels
POR

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 external link
17.

OMIM.ORG article

Omim 124015 external link
18.

Orphanet article

Orphanet ID 117944 external link
19.

Wikipedia Artikel

Wikipedia DE (NADPH-Cytochrom-P450-Oxidoreduktase) external link
Update: 14. August 2020
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