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 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

Related Diseases:

Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1

References:

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 [^]
9.

NCBI article

NCBI 120227 [^]
10.

OMIM.ORG article

Omim 608713 [^]
11.

Wikipedia article

Wikipedia EN (CYP2R1) [^]
Update: April 29, 2019