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'''Cholesterol 24-hydroxylase''' is an [[enzyme]] that in humans is encoded by the ''CYP46A1'' [[gene]].<ref name="pmid10377398">{{cite journal | vauthors = Lund EG, Guileyardo JM, Russell DW | title = cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain | journal = Proc Natl Acad Sci U S A | volume = 96 | issue = 13 | pages = 7238–43 |date=Jul 1999 | pmid = 10377398 | pmc = 22064 | doi =10.1073/pnas.96.13.7238 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10858| accessdate = }}</ref>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Cytochrome P450, family 46, subfamily A, polypeptide 1
| HGNCid = 2641
| Symbol = CYP46A1
| AltSymbols =; CP46; CYP46
| OMIM = 604087
| ECnumber = 
| Homologene = 31395
| MGIid = 1341877
| GeneAtlas_image1 = PBB_GE_CYP46A1_220331_at_tn.png
| Function = {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0008395 |text = steroid hydroxylase activity}} {{GNF_GO|id=GO:0020037 |text = heme binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}} {{GNF_GO|id=GO:0006629 |text = lipid metabolic process}} {{GNF_GO|id=GO:0006707 |text = cholesterol catabolic process}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0008202 |text = steroid metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10858
    | Hs_Ensembl = ENSG00000036530
    | Hs_RefseqProtein = NP_006659
    | Hs_RefseqmRNA = NM_006668
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 14
    | Hs_GenLoc_start = 99220407
    | Hs_GenLoc_end = 99263390
    | Hs_Uniprot = Q9Y6A2
    | Mm_EntrezGene = 13116
    | Mm_Ensembl = ENSMUSG00000021259
    | Mm_RefseqmRNA = XM_981091
    | Mm_RefseqProtein = XP_986185
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 108782165
    | Mm_GenLoc_end = 108810040
    | Mm_Uniprot = Q3US73
  }}
}}
'''Cytochrome P450, family 46, subfamily A, polypeptide 1''', also known as '''CYP46A1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10858| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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 endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism.<ref name="entrez">{{cite web | title = Entrez Gene: CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10858| accessdate = }}</ref>
| summary_text = 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 endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood–brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism.<ref name="entrez"/>
}}
}}


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==External links==
* {{UCSC gene info|CYP46A1}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Russell DW |title=Oxysterol biosynthetic enzymes. |journal=Biochim. Biophys. Acta |volume=1529 |issue= 1-3 |pages= 126-35 |year= 2001 |pmid= 11111082 |doi= }}
*{{cite journal | author=Russell DW |title=Oxysterol biosynthetic enzymes. |journal=Biochim. Biophys. Acta |volume=1529 |issue= 1–3 |pages= 126–35 |year= 2001 |pmid= 11111082 |doi= 10.1016/S1388-1981(00)00142-6}}
*{{cite journal | author=Wolozin B |title=Cyp46 (24S-cholesterol hydroxylase): a genetic risk factor for Alzheimer disease. |journal=Arch. Neurol. |volume=60 |issue= 1 |pages= 16-8 |year= 2003 |pmid= 12533083 |doi= }}
*{{cite journal | author=Wolozin B | author-link=Benjamin Wolozin | title=Cyp46 (24S-cholesterol hydroxylase): a genetic risk factor for Alzheimer disease |journal=Arch. Neurol. |volume=60 |issue= 1 |pages= 16–8 |year= 2003 |pmid= 12533083 |doi=10.1001/archneur.60.1.16 }}
*{{cite journal | author=Björkhem I, Lütjohann D, Diczfalusy U, ''et al.'' |title=Cholesterol homeostasis in human brain: turnover of 24S-hydroxycholesterol and evidence for a cerebral origin of most of this oxysterol in the circulation. |journal=J. Lipid Res. |volume=39 |issue= 8 |pages= 1594-600 |year= 1998 |pmid= 9717719 |doi= }}
*{{cite journal | vauthors=Björkhem I, Lütjohann D, Diczfalusy U |title=Cholesterol homeostasis in human brain: turnover of 24S-hydroxycholesterol and evidence for a cerebral origin of most of this oxysterol in the circulation |journal=J. Lipid Res. |volume=39 |issue= 8 |pages= 1594–600 |year= 1998 |pmid= 9717719 |doi= |display-authors=etal}}
*{{cite journal  | author=Lund EG, Guileyardo JM, Russell DW |title=cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 13 |pages= 7238-43 |year= 1999 |pmid= 10377398 |doi=  }}
*{{cite journal | vauthors=Bogdanovic N, Bretillon L, Lund EG |title=On the turnover of brain cholesterol in patients with Alzheimer's disease. Abnormal induction of the cholesterol-catabolic enzyme CYP46 in glial cells |journal=Neurosci. Lett. |volume=314 |issue= 1–2 |pages= 45–8 |year= 2002 |pmid= 11698143 |doi=10.1016/S0304-3940(01)02277-7 |display-authors=etal}}
*{{cite journal | author=Bogdanovic N, Bretillon L, Lund EG, ''et al.'' |title=On the turnover of brain cholesterol in patients with Alzheimer's disease. Abnormal induction of the cholesterol-catabolic enzyme CYP46 in glial cells. |journal=Neurosci. Lett. |volume=314 |issue= 1-2 |pages= 45-8 |year= 2002 |pmid= 11698143 |doi= }}
*{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | vauthors=Papassotiropoulos A, Streffer JR, Tsolaki M |title=Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism |journal=Arch. Neurol. |volume=60 |issue= 1 |pages= 29–35 |year= 2003 |pmid= 12533085 |doi=10.1001/archneur.60.1.29 |display-authors=etal}}
*{{cite journal | author=Papassotiropoulos A, Streffer JR, Tsolaki M, ''et al.'' |title=Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. |journal=Arch. Neurol. |volume=60 |issue= 1 |pages= 29-35 |year= 2003 |pmid= 12533085 |doi= }}
*{{cite journal | vauthors=Mast N, Norcross R, Andersson U |title=Broad substrate specificity of human cytochrome P450 46A1 which initiates cholesterol degradation in the brain |journal=Biochemistry |volume=42 |issue= 48 |pages= 14284–92 |year= 2004 |pmid= 14640697 |doi= 10.1021/bi035512f |display-authors=etal}}
*{{cite journal | author=Mast N, Norcross R, Andersson U, ''et al.'' |title=Broad substrate specificity of human cytochrome P450 46A1 which initiates cholesterol degradation in the brain. |journal=Biochemistry |volume=42 |issue= 48 |pages= 14284-92 |year= 2004 |pmid= 14640697 |doi= 10.1021/bi035512f }}
*{{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | vauthors=Chalmers KA, Culpan D, Kehoe PG |title=APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease |journal=NeuroReport |volume=15 |issue= 1 |pages= 95–8 |year= 2004 |pmid= 15106838 |doi=10.1097/00001756-200401190-00019 |display-authors=etal}}
*{{cite journal | author=Chalmers KA, Culpan D, Kehoe PG, ''et al.'' |title=APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease. |journal=Neuroreport |volume=15 |issue= 1 |pages= 95-8 |year= 2004 |pmid= 15106838 |doi= }}
*{{cite journal | vauthors=Borroni B, Archetti S, Agosti C |title=Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators |journal=Neurobiol. Aging |volume=25 |issue= 6 |pages= 747–51 |year= 2004 |pmid= 15165699 |doi= 10.1016/j.neurobiolaging.2003.08.004 |display-authors=etal}}
*{{cite journal | author=Borroni B, Archetti S, Agosti C, ''et al.'' |title=Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators. |journal=Neurobiol. Aging |volume=25 |issue= 6 |pages= 747-51 |year= 2004 |pmid= 15165699 |doi= 10.1016/j.neurobiolaging.2003.08.004 }}
*{{cite journal | vauthors=Kabbara A, Payet N, Cottel D |title=Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population |journal=Neurosci. Lett. |volume=363 |issue= 2 |pages= 139–43 |year= 2004 |pmid= 15172102 |doi= 10.1016/j.neulet.2004.03.066 |display-authors=etal}}
*{{cite journal | author=Kabbara A, Payet N, Cottel D, ''et al.'' |title=Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population. |journal=Neurosci. Lett. |volume=363 |issue= 2 |pages= 139-43 |year= 2004 |pmid= 15172102 |doi= 10.1016/j.neulet.2004.03.066 }}
*{{cite journal | vauthors=Wang B, Zhang C, Zheng W |title=Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese |journal=Neurosci. Lett. |volume=369 |issue= 2 |pages= 104–7 |year= 2004 |pmid= 15450677 |doi= 10.1016/j.neulet.2004.07.020 |display-authors=etal}}
*{{cite journal | author=Wang B, Zhang C, Zheng W, ''et al.'' |title=Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese. |journal=Neurosci. Lett. |volume=369 |issue= 2 |pages= 104-7 |year= 2004 |pmid= 15450677 |doi= 10.1016/j.neulet.2004.07.020 }}
*{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | vauthors=Golanska E, Hulas-Bigoszewska K, Wojcik I |title=CYP46: a risk factor for Alzheimer's disease or a coincidence? |journal=Neurosci. Lett. |volume=383 |issue= 1–2 |pages= 105–8 |year= 2005 |pmid= 15936520 |doi= 10.1016/j.neulet.2005.03.049 |display-authors=etal}}
*{{cite journal | author=Golanska E, Hulas-Bigoszewska K, Wojcik I, ''et al.'' |title=CYP46: a risk factor for Alzheimer's disease or a coincidence? |journal=Neurosci. Lett. |volume=383 |issue= 1-2 |pages= 105-8 |year= 2005 |pmid= 15936520 |doi= 10.1016/j.neulet.2005.03.049 }}
*{{cite journal | vauthors=Shibata N, Kawarai T, Lee JH |title=Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease |journal=Neurosci. Lett. |volume=391 |issue= 3 |pages= 142–6 |year= 2006 |pmid= 16157450 |doi= 10.1016/j.neulet.2005.08.048 |display-authors=etal}}
*{{cite journal | author=Shibata N, Kawarai T, Lee JH, ''et al.'' |title=Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. |journal=Neurosci. Lett. |volume=391 |issue= 3 |pages= 142-6 |year= 2006 |pmid= 16157450 |doi= 10.1016/j.neulet.2005.08.048 }}
*{{cite journal | vauthors=Ma SL, Tang NL, Lam LC, Chiu HF |title=Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population |journal=International psychogeriatrics / IPA |volume=18 |issue= 1 |pages= 37–45 |year= 2006 |pmid= 16734927 |doi= 10.1017/S1041610205003108 }}
*{{cite journal | author=Ma SL, Tang NL, Lam LC, Chiu HF |title=Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population. |journal=International psychogeriatrics / IPA |volume=18 |issue= 1 |pages= 37-45 |year= 2006 |pmid= 16734927 |doi= 10.1017/S1041610205003108 }}
*{{cite journal | vauthors=Wang F, Jia J |title=Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese |journal=Brain Res. |volume=1147 |issue= |pages= 34–8 |year= 2007 |pmid= 17335784 |doi= 10.1016/j.brainres.2007.02.005 }}
*{{cite journal | author=Wang F, Jia J |title=Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese. |journal=Brain Res. |volume=1147 |issue= |pages= 34-8 |year= 2007 |pmid= 17335784 |doi= 10.1016/j.brainres.2007.02.005 }}
}}
}}
{{refend}}
{{refend}}
{{Cytochrome P450}}
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Latest revision as of 06:31, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Cholesterol 24-hydroxylase is an enzyme that in humans is encoded by the CYP46A1 gene.[1][2]

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 endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood–brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism.[2]

References

  1. ↑ Lund EG, Guileyardo JM, Russell DW (Jul 1999). "cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain". Proc Natl Acad Sci U S A. 96 (13): 7238–43. doi:10.1073/pnas.96.13.7238. PMC 22064. PMID 10377398.
  2. ↑ 2.0 2.1 "Entrez Gene: CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1".

External links

Further reading



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