CYP4V2

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CYP4V2
Identifiers
Aliases CYP4V2, BCD, CYP4AH1, cytochrome P450 family 4 subfamily V member 2
External IDs MGI: 2142763 HomoloGene: 133054 GeneCards: CYP4V2
EC number 1.14.13.199
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_207352

NM_133969

RefSeq (protein)

NP_997235

NP_598730.1
NP_598730

Location (UCSC) Chr 4: 186.19 – 186.21 Mb Chr 8: 45.3 – 45.33 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.[3][4]


Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 1181977Freely accessible. PMID 15042513. 
  4. ^ "Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2". 
  5. ^ 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 3365069Freely accessible. PMID 22693542. 

Further reading[edit]