Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene encodes an enzyme that is responsible for vitamin D activation by 25 hydroxylation. Mutations are responsible for vitamin D dependent rickets type 1B
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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 article Wikipedia EN (CYP2R1)
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