CYP4F22
| Cytochrome P450, family 4, subfamily F, polypeptide 22 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | CYP4F22 ; ARCI5; INLNE; LI3 | ||||||||||||
| External IDs | OMIM: 611495 MGI: 2445210 HomoloGene: 69814 IUPHAR: 1349 GeneCards: CYP4F22 Gene | ||||||||||||
| EC number | 1.14.14.- | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 126410 | 320997 | |||||||||||
| Ensembl | ENSG00000171954 | ENSMUSG00000061126 | |||||||||||
| UniProt | Q6NT55 | Q8BGU0 | |||||||||||
| RefSeq (mRNA) | NM_173483 | NM_177307 | |||||||||||
| RefSeq (protein) | NP_775754 | NP_796281 | |||||||||||
| Location (UCSC) | Chr 19: 15.62 – 15.66 Mb | Chr 17: 32.47 – 32.49 Mb | |||||||||||
| PubMed search | |||||||||||||
CYP4F22 (cytochrome P450, family 4, subfamily F, polypeptide 22) is a protein that in humans is encoded by the CYP4F22 gene.[1]
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3.[2]
References
- ↑ Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud'homme JF, Fischer J (March 2006). "Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3". Hum. Mol. Genet. 15 (5): 767–76. doi:10.1093/hmg/ddi491. PMID 16436457.
- ↑ "Entrez Gene: CYP4F22".
Further reading
- Strausberg RL, Feingold EA, Grouse LH et al. (2002). "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. PMC 139241. PMID 12477932.
- Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Fischer J, Faure A, Bouadjar B et al. (2000). "Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity". Am. J. Hum. Genet. 66 (3): 904–13. doi:10.1086/302814. PMC 1288171. PMID 10712205.
- Elias PM, Williams ML, Holleran WM et al. (2008). "Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism". J. Lipid Res. 49 (4): 697–714. doi:10.1194/jlr.R800002-JLR200. PMC 2844331. PMID 18245815.
- Nelson DR, Zeldin DC, Hoffman SM et al. (2004). "Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants". Pharmacogenetics 14 (1): 1–18. doi:10.1097/00008571-200401000-00001. PMID 15128046.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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