Biology:CYP4V2
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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][4]
References
- ↑ "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2". Am J Hum Genet 74 (5): 817–26. Apr 2004. doi:10.1086/383228. PMID 15042513.
- ↑ "Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=285440.
- ↑ Wang, Y; Guo, L; Cai, SP; Dai, M; Yang, Q; Yu, W; Yan, N; Zhou, X et al. (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. PMID 22693542. Bibcode: 2012PLoSO...733673W.
- ↑ Nonsyndromic Retinitis Pigmentosa Overview. 1993. PMID 20301590.
Further reading
- "Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.". Am. J. Hum. Genet. 67 (5): 1309–13. 2000. doi:10.1016/S0002-9297(07)62960-7. PMID 11001583.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.". Am. J. Ophthalmol. 139 (5): 894–9. 2005. doi:10.1016/j.ajo.2004.11.065. PMID 15860296.
- "CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.". Ophthalmic Res. 37 (5): 262–9. 2005. doi:10.1159/000087214. PMID 16088246.
- "Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.". Mol. Vis. 11: 738–43. 2006. PMID 16179904.
- "Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.". Invest. Ophthalmol. Vis. Sci. 46 (10): 3812–6. 2005. doi:10.1167/iovs.05-0378. PMID 16186368.
- "Clinical and molecular findings in three Japanese patients with crystalline retinopathy.". Jpn. J. Ophthalmol. 50 (5): 426–31. 2006. doi:10.1007/s10384-006-0350-0. PMID 17013694.
- "Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations". Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology. 572. 2006. pp. 49–53. doi:10.1007/0-387-32442-9_8. ISBN 978-0-387-28464-4. https://archive.org/details/isbn_9780387284644/page/49.
- "Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.". Invest. Ophthalmol. Vis. Sci. 48 (11): 5212–20. 2007. doi:10.1167/iovs.07-0660. PMID 17962476.
 |  |
