CYP24A1: Difference between revisions
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'''CYP24A1''' could play a role in Severe Infantile [[Hypercalcaemia|Hypercalcemia]].<ref>{{cite journal |
'''CYP24A1''' could play a role in Severe Infantile [[Hypercalcaemia|Hypercalcemia]].<ref>{{cite journal |
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===Interactive pathway map=== |
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Revision as of 21:53, 24 January 2012
Template:PBB 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
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]
References
- ^ "Entrez Gene: CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1".
- ^ Sakaki T, Kagawa N, Yamamoto K, Inouye K (2005). "Metabolism of vitamin D3 by cytochromes P450". Front. Biosci. 10: 119–34. PMID 15574355.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ {{cite journal
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
<references></references>| quotes = yes |last=Dauber |first=Andrew |authorlink= |coauthors=Nguyen Thutrang T, Sochett Etienne, Cole David E C, Horst Ronald, Abrams Steven A, Carpenter Thomas O, Hirschhorn Joel N |year=2011|month=Nov. |title=Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia |journal=The Journal of clinical endocrinology and metabolism |volume= |issue= |pages= |publisher= |location = | issn = | pmid = 22112808 |doi = 10.1210/jc.2011-1972 | bibcode = | oclc =| id = | url = | doi = 10.1210/jc.2011-1972 | language = ENG| format = | accessdate = | laysummary = | laysource = | laydate = | quote =
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"§" (see the help page).Further reading
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