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{{Infobox_gene}}
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'''Cytochrome P450 4V2''' is a [[protein]] that in humans is encoded by the ''CYP4V2'' [[gene]].<ref name="pmid15042513">{{cite journal | vauthors = Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF | title = Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 | journal = Am J Hum Genet | volume = 74 | issue = 5 | pages = 817–26 |date=Apr 2004 | pmid = 15042513 | pmc = 1181977 | doi = 10.1086/383228 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=285440| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Cytochrome P450, family 4, subfamily V, polypeptide 2
| HGNCid = 23198
| Symbol = CYP4V2
| AltSymbols =; BCD; CYP4AH1; MGC43534
| OMIM = 608614
| ECnumber =
| Homologene = 70433
| MGIid = 2142763
| Function = {{GNF_GO|id=GO:0004497 |text = monooxygenase activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{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: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:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 285440
    | Hs_Ensembl = ENSG00000145476
    | Hs_RefseqProtein = NP_997235
    | Hs_RefseqmRNA = NM_207352
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 4
    | Hs_GenLoc_start = 187349972
    | Hs_GenLoc_end = 187371605
    | Hs_Uniprot = Q6ZWL3
    | Mm_EntrezGene = 102294
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_133969
    | Mm_RefseqProtein = NP_598730
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
 
 
==Overview==
 
'''Cytochrome P450, family 4, subfamily V, polypeptide 2''', also known as '''CYP4V2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=285440| accessdate = }}</ref>


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| summary_text =  
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Mutations are associated with [[Bietti's crystalline dystrophy]] and [[retinitis pigmentosas]].<ref name=pmid.22693542>{{cite journal|last=Wang|first=Y |author2=Guo, L |author3=Cai, SP |author4=Dai, M |author5=Yang, Q |author6=Yu, W |author7=Yan, N |author8=Zhou, X |author9=Fu, J |author10=Guo, X |author11=Han, P |author12=Wang, J |author13=Liu, X|title=Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa.|journal=PLoS ONE|date=2012|volume=7|issue=5|pages=e33673|pmid=22693542|doi=10.1371/journal.pone.0033673|pmc=3365069}}</ref>
==References==
==References==
{{reflist}}
{{reflist}}
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| citations =  
| citations =  
*{{cite journal  | author=Jiao X, Munier FL, Iwata F, ''et al.'' |title=Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1309-13 |year= 2000 |pmid= 11001583 |doi=  }}
*{{cite journal  | vauthors=Jiao X, Munier FL, Iwata F |title=Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1309–13 |year= 2000 |pmid= 11001583 |doi=10.1016/S0002-9297(07)62960-7  | pmc=1288572 |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=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=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=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=Li A, Jiao X, Munier FL, ''et al.'' |title=Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. |journal=Am. J. Hum. Genet. |volume=74 |issue= 5 |pages= 817-26 |year= 2004 |pmid= 15042513 |doi= 10.1086/383228 }}
*{{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=Wada Y, Itabashi T, Sato H |title=Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. |journal=Am. J. Ophthalmol. |volume=139 |issue= 5 |pages= 894–9 |year= 2005 |pmid= 15860296 |doi= 10.1016/j.ajo.2004.11.065 |display-authors=etal}}
*{{cite journal  | author=Wada Y, Itabashi T, Sato H, ''et al.'' |title=Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. |journal=Am. J. Ophthalmol. |volume=139 |issue= 5 |pages= 894-9 |year= 2005 |pmid= 15860296 |doi= 10.1016/j.ajo.2004.11.065 }}
*{{cite journal  | vauthors=Gekka T, Hayashi T, Takeuchi T |title=CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy. |journal=Ophthalmic Res. |volume=37 |issue= 5 |pages= 262–9 |year= 2005 |pmid= 16088246 |doi= 10.1159/000087214 |display-authors=etal}}
*{{cite journal  | author=Gekka T, Hayashi T, Takeuchi T, ''et al.'' |title=CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy. |journal=Ophthalmic Res. |volume=37 |issue= 5 |pages= 262-9 |year= 2005 |pmid= 16088246 |doi= 10.1159/000087214 }}
*{{cite journal  | vauthors=Shan M, Dong B, Zhao X |title=Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. |journal=Mol. Vis. |volume=11 |issue=  |pages= 738–43 |year= 2006 |pmid= 16179904 |doi=  |display-authors=etal}}
*{{cite journal  | author=Shan M, Dong B, Zhao X, ''et al.'' |title=Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. |journal=Mol. Vis. |volume=11 |issue=  |pages= 738-43 |year= 2006 |pmid= 16179904 |doi=  }}
*{{cite journal  | vauthors=Lee KY, Koh AH, Aung T |title=Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 10 |pages= 3812–6 |year= 2005 |pmid= 16186368 |doi= 10.1167/iovs.05-0378 |display-authors=etal}}
*{{cite journal  | author=Lee KY, Koh AH, Aung T, ''et al.'' |title=Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 10 |pages= 3812-6 |year= 2005 |pmid= 16186368 |doi= 10.1167/iovs.05-0378 }}
*{{cite journal  | vauthors=Jin ZB, Ito S, Saito Y |title=Clinical and molecular findings in three Japanese patients with crystalline retinopathy. |journal=Jpn. J. Ophthalmol. |volume=50 |issue= 5 |pages= 426–31 |year= 2006 |pmid= 17013694 |doi= 10.1007/s10384-006-0350-0 |display-authors=etal}}
*{{cite journal  | author=Jin ZB, Ito S, Saito Y, ''et al.'' |title=Clinical and molecular findings in three Japanese patients with crystalline retinopathy. |journal=Jpn. J. Ophthalmol. |volume=50 |issue= 5 |pages= 426-31 |year= 2006 |pmid= 17013694 |doi= 10.1007/s10384-006-0350-0 }}
*{{cite journal  | vauthors=Nakamura M, Lin J, Nishiguchi K |title=Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. |journal=Adv. Exp. Med. Biol. |volume=572 |issue=  |pages= 49–53 |year= 2007 |pmid= 17249554 |doi=10.1007/0-387-32442-9_8 |display-authors=etal}}
*{{cite journal  | author=Nakamura M, Lin J, Nishiguchi K, ''et al.'' |title=Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. |journal=Adv. Exp. Med. Biol. |volume=572 |issue=  |pages= 49-53 |year= 2007 |pmid= 17249554 |doi=  }}
*{{cite journal  | vauthors=Lai TY, Ng TK, Tam PO |title=Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 11 |pages= 5212–20 |year= 2007 |pmid= 17962476 |doi= 10.1167/iovs.07-0660 |display-authors=etal}}
*{{cite journal  | author=Lai TY, Ng TK, Tam PO, ''et al.'' |title=Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 11 |pages= 5212-20 |year= 2007 |pmid= 17962476 |doi= 10.1167/iovs.07-0660 }}
}}
}}
{{refend}}
{{refend}}
{{Cytochrome P450}}
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[[Category:Genetics]]


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Latest revision as of 10:16, 30 August 2017

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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

Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.[1][2]


Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas.[3]

References

  1. ↑ Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF (Apr 2004). "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2". Am J Hum Genet. 74 (5): 817–26. doi:10.1086/383228. PMC 1181977. PMID 15042513.
  2. ↑ "Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2".
  3. ↑ Wang, Y; Guo, L; Cai, SP; Dai, M; Yang, Q; Yu, W; Yan, N; Zhou, X; Fu, J; Guo, X; Han, P; Wang, J; Liu, X (2012). "Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa". PLoS ONE. 7 (5): e33673. doi:10.1371/journal.pone.0033673. PMC 3365069. PMID 22693542.

Further reading



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