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:

Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
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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Update: Sept. 26, 2018