CYP4V2

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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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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