CYP4F22
| CYP4F22 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 19: 15.51 – 15.55 Mb | Chr 17: 32.67 – 32.71 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
CYP4F22 (cytochrome P450, family 4, subfamily F, polypeptide 22) is a protein that in humans is encoded by the CYP4F22 gene.[5]
This gene encodes a member of the
Activity
CYP4F22, like other CYP4F proteins, is a
Function
CYP4F22 omega hydroxylates the VLCFA in esterified omega-oxyacyl-sphingosine complex to form an esterified omega-hydroxyacyl-sphingosine complex. This step is critical for delivering the
CYP4F22, like many of the CYP4F series of CYPs, may prove to serve other functions but its role in hydroxylating VLCFA in the skin's water barrier function, as defined in genetic studies (see below), has dominated research on it.
Genetic studies
A small number of newborns with Congenital ichthyosiform erythroderma have been found to have autosomal recessive lose of function mutations in CYP4F22.[12][13] Of the varies subtypes of congenital ichthyosiform erythroderma, these mutations have been associated almost exclusively with the Lamellar ichthyosis subtype.[13]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000171954 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000061126 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 16436457.
- ^
This article incorporates public domain material from "Entrez Gene: CYP4F22". Reference Sequence collection. National Center for Biotechnology Information.
- PMID 26233909.
- PMID 26056268.
- ^ PMID 23954555.
- PMID 21558561.
- PMID 24021977.
- PMID 23871423.
- ^ PMID 25982146.
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. 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. 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. 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. 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. PMID 15128046.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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