Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cytochrome P450, family 24, subfamily A, polypeptide 1

The CYP24A1 gene encodes a member of the cytochrome P450 superfamily of enzymes. Its physiological role is degradation of 1,25-dihydroxyvitamin D3, calcitriol, the physiologically active form of vitamin D3. Conclusively, loss-of-function mutations cause symptoms resembling vitamin D hypervitamonosis, especially prominent after Vitamin D administration. Infantile hypercalcemia is an autosomal recessive disorder caused by mutations of the CYP24A1 gene.

Genetests:

Research 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:

Infantile hypercalcemia
CYP24A1

References:

1.

Albertson DG et al. (2000) Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene.

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2.

Kasuga H et al. (2002) Characterization of transgenic rats constitutively expressing vitamin D-24-hydroxylase gene.

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3.

Liu PT et al. (2006) Toll-like receptor triggering of a vitamin D-mediated human antimicrobial response.

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4.

Ogunkolade WB et al. (2006) Vitamin D metabolism in peripheral blood mononuclear cells is influenced by chewing "betel nut" (Areca catechu) and vitamin D status.

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5.

Ohyama Y et al. (1991) Cloning and expression of cDNA encoding 25-hydroxyvitamin D3 24-hydroxylase.

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6.

Chen KS et al. (1995) Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements.

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7.

Malas S et al. (1994) The genes for endothelin 3, vitamin D 24-hydroxylase, and melanocortin 3 receptor map to distal mouse chromosome 2, in the region of conserved synteny with human chromosome 20.

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8.

Labuda M et al. (1993) Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D-deficient rickets.

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9.

Hahn CN et al. (1993) Localization of the human vitamin D 24-hydroxylase gene (CYP24) to chromosome 20q13.2-->q13.3.

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10.

Chen KS et al. (1993) Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA.

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11.

Orphanet article

Orphanet ID 279838 [^]
12.

NCBI article

NCBI 1591 [^]
13.

OMIM.ORG article

Omim 126065 [^]
14.

Wikipedia article

Wikipedia EN (CYP24A1) [^]
Update: May 9, 2019