CYP4V2

From Wikipedia, the free encyclopedia

Cytochrome P450, family 4, subfamily V, polypeptide 2

Identifiers

CYP4V2; BCD; CYP4AH1; MGC43534

External IDs

OMIM: 608614 MGI: 2142763 HomoloGene: 70433

Gene ontology
Molecular Function:	• monooxygenase activity • iron ion binding • heme binding • metal ion binding
Cellular Component:	• endoplasmic reticulum • membrane • integral to membrane
Biological Process:	• electron transport • visual perception • response to stimulus

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_207352 (mRNA)
NP_997235 (protein)

NM_133969 (mRNA)
NP_598730 (protein)

Location

Chr 4: 187.35 - 187.37 Mb

n/a

Pubmed search

[1]

[2]

Cytochrome P450, family 4, subfamily V, polypeptide 2, also known as CYP4V2, is a human gene.^[1]

[edit] References

^ Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2.

[edit] Further reading

Jiao X, Munier FL, Iwata F, et al. (2000). "Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.". Am. J. Hum. Genet. 67 (5): 1309-13. PMID 11001583.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Li A, Jiao X, Munier FL, et al. (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. PMID 15042513.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Wada Y, Itabashi T, Sato H, et al. (2005). "Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.". Am. J. Ophthalmol. 139 (5): 894-9. doi:10.1016/j.ajo.2004.11.065. PMID 15860296.
Gekka T, Hayashi T, Takeuchi T, et al. (2005). "CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.". Ophthalmic Res. 37 (5): 262-9. doi:10.1159/000087214. PMID 16088246.
Shan M, Dong B, Zhao X, et al. (2006). "Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.". Mol. Vis. 11: 738-43. PMID 16179904.
Lee KY, Koh AH, Aung T, et al. (2005). "Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.". Invest. Ophthalmol. Vis. Sci. 46 (10): 3812-6. doi:10.1167/iovs.05-0378. PMID 16186368.
Jin ZB, Ito S, Saito Y, et al. (2006). "Clinical and molecular findings in three Japanese patients with crystalline retinopathy.". Jpn. J. Ophthalmol. 50 (5): 426-31. doi:10.1007/s10384-006-0350-0. PMID 17013694.
Nakamura M, Lin J, Nishiguchi K, et al. (2007). "Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.". Adv. Exp. Med. Biol. 572: 49-53. PMID 17249554.
Lai TY, Ng TK, Tam PO, et al. (2007). "Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.". Invest. Ophthalmol. Vis. Sci. 48 (11): 5212-20. doi:10.1167/iovs.07-0660. PMID 17962476.