CYP4V2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Cytochrome P450, family 4, subfamily V, polypeptide 2
Identifiers
Symbols CYP4V2 ; BCD; CYP4AH1
External IDs OMIM608614 MGI2142763 HomoloGene133054 GeneCards: CYP4V2 Gene
Orthologs
Species Human Mouse
Entrez 285440 102294
Ensembl ENSG00000145476 ENSMUSG00000079057
UniProt Q6ZWL3 Q9DBW0
RefSeq (mRNA) NM_207352 NM_133969
RefSeq (protein) NP_997235 NP_598730
Location (UCSC) Chr 4:
187.11 – 187.13 Mb
Chr 8:
45.27 – 45.33 Mb
PubMed search [1] [2]

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[edit]

  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[edit]