Cytochrome P450, family 2, subfamily R, polypeptide 1
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
Genetests:
Related Diseases:
References:
1. |
Cheng JB et al. (2004) Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
|
2. |
Casella SJ et al. (1994) A possible genetic defect in 25-hydroxylation as a cause of rickets.
|
3. |
Thacher TD et al. (2000) Case-control study of factors associated with nutritional rickets in Nigerian children.
|
4. |
None (2003) Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution.
|
5. |
Cheng JB et al. (2003) De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase.
|
6. |
Shinkyo R et al. (2004) Metabolism of vitamin D by human microsomal CYP2R1.
|
7. |
Ponchon G et al. (1969) "Activation" of vitamin D by the liver.
|
8. |
Orphanet article
Orphanet ID 121000
|
9. |
NCBI article
NCBI 120227
|
10. |
OMIM.ORG article
Omim 608713
|
11. |
Wikipedia article
Wikipedia EN (CYP2R1)
|
Update: Aug. 14, 2020