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CYP4V2

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CYP4V2
Identifiers
AliasesCYP4V2, BCD, CYP4AH1, cytochrome P450 family 4 subfamily V member 2
External IDsOMIM: 608614; MGI: 2142763; HomoloGene: 133054; GeneCards: CYP4V2; OMA:CYP4V2 - orthologs
EC number1.14.14.79
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_207352

NM_133969

RefSeq (protein)

NP_997235

NP_598730

Location (UCSC)Chr 4: 186.19 – 186.21 MbChr 8: 45.76 – 45.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.[5][6]

Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas.[7][8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000145476Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079057Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ "Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2".
  7. ^ 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. Bibcode:2012PLoSO...733673W. doi:10.1371/journal.pone.0033673. PMC 3365069. PMID 22693542.
  8. ^ Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Fahim AT, Daiger SP, Weleber RG (1993). "Nonsyndromic Retinitis Pigmentosa Overview". PMID 20301590. {{cite journal}}: Cite journal requires |journal= (help)

Further reading

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