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 |
Related Diseases:
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
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12. |
NCBI article
NCBI 1591
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13. |
OMIM.ORG article
Omim 126065
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14. |
Wikipedia article
Wikipedia EN (CYP24A1)
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Update: Aug. 14, 2020