CYP24A1

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Cytochrome P450, family 24, subfamily A, polypeptide 1
Identifiers
Symbols CYP24A1 ; CP24; CYP24; HCAI; P450-CC24
External IDs OMIM126065 MGI88593 HomoloGene68094 ChEMBL: 4521 GeneCards: CYP24A1 Gene
EC number 1.14.13.126
RNA expression pattern
PBB GE CYP24A1 206504 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1591 13081
Ensembl ENSG00000019186 ENSMUSG00000038567
UniProt Q07973 Q64441
RefSeq (mRNA) NM_000782 NM_009996
RefSeq (protein) NP_000773 NP_034126
Location (UCSC) Chr 20:
52.77 – 52.79 Mb
Chr 2:
170.48 – 170.5 Mb
PubMed search [1] [2]

1,25-dihydroxyvitamin D3 24-hydroxylase, mitochondrial is an enzyme that in humans is encoded by the CYP24A1 gene.[1]

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.

Function[edit]

This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain to form calcitroic acid.

In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system.[2]


CYP24A1 could play a role in Severe Infantile Hypercalcemia.[3]

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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VitaminDSynthesis_WP1531 Go to article Go to article Go to article Go to article go to article Go to article Go to article Go to article go to article go to article go to article go to article Go to article Go to article go to article Go to article go to article go to article go to article Go to article go to article
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Vitamin D Synthesis Pathway edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531". 

References[edit]

  1. ^ "Entrez Gene: CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1". 
  2. ^ Sakaki T, Kagawa N, Yamamoto K, Inouye K (January 2005). "Metabolism of vitamin D3 by cytochromes P450". Front. Biosci. 10: 119–34. PMID 15574355. 
  3. ^ Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN (February 2012). "Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia". J. Clin. Endocrinol. Metab. 97 (2): E268–74. doi:10.1210/jc.2011-1972. PMC 3275367. PMID 22112808. 

Further reading[edit]