Vitamin D 25-Hydroxylase
Das Gen kodiert ein wichtiges Enzym bei der Aktivierung des Vitamin D, die 25 Hydroxylase. Mutationen sind für die Vitamin D-abhängige Rachitis vom Typ 1B verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Cheng JB et al. (2004) Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
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2. |
Casella SJ et al. (1994) A possible genetic defect in 25-hydroxylation as a cause of rickets.
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3. |
Thacher TD et al. (2000) Case-control study of factors associated with nutritional rickets in Nigerian children.
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4. |
None (2003) Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution.
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5. |
Cheng JB et al. (2003) De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase.
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6. |
Shinkyo R et al. (2004) Metabolism of vitamin D by human microsomal CYP2R1.
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7. |
Ponchon G et al. (1969) "Activation" of vitamin D by the liver.
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8. |
Orphanet article
Orphanet ID 121000
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9. |
NCBI article
NCBI 120227
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10. |
OMIM.ORG article
Omim 608713
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11. |
Wikipedia Artikel
Wikipedia DE (Cytochrom_P450_2R1)
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Update: 14. August 2020