Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1

References:

1.

Thacher TD et al. (2000) Case-control study of factors associated with nutritional rickets in Nigerian children.

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2.

Nelson DR et al. (2003) Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution.

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3.

Cheng JB et al. (2003) De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase.

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4.

Cheng JB et al. (2004) Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.

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5.

Shinkyo R et al. (2004) Metabolism of vitamin D by human microsomal CYP2R1.

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6.

Ponchon G et al. (1969) "Activation" of vitamin D by the liver.

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7.

Casella SJ et al. (1994) A possible genetic defect in 25-hydroxylation as a cause of rickets.

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Update: Sept. 26, 2018