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CYP24A1
126065


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Cytochrome P450, family 24, subfamily A, polypeptide 1

Scientific background:

Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Methodology:

 

clinical
test
Method Genomic sequencing of the entire coding region
Turn-around time 25 working days
Effort medium
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

Systematic link table: 

CYP24A1

Literature: 

Albertson DG et al. (2000) Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene.
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.
Chen KS et al. (1993) Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA.
Hahn CN et al. (1993) Localization of the human vitamin D 24-hydroxylase gene (CYP24) to chromosome 20q13.2-->q13.3.
Kasuga H et al. (2002) Characterization of transgenic rats constitutively expressing vitamin D-24-hydroxylase gene.
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.
Liu PT et al. (2006) Toll-like receptor triggering of a vitamin D-mediated human antimicrobial response.
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.
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.
Ohyama Y et al. (1991) Cloning and expression of cDNA encoding 25-hydroxyvitamin D3 24-hydroxylase.