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    CYP4F22 cytochrome P450 family 4 subfamily F member 22 [ Homo sapiens (human) ]

    Gene ID: 126410, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CYP4F22provided by HGNC
    Official Full Name
    cytochrome P450 family 4 subfamily F member 22provided by HGNC
    Primary source
    HGNC:HGNC:26820
    See related
    Ensembl:ENSG00000171954 MIM:611495; AllianceGenome:HGNC:26820
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LI3; ARCI5; INLNE
    Summary
    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. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 11.5), esophagus (RPKM 6.1) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYP4F22 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (15508525..15552317)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (15633518..15677350)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15619336..15663128)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14188 Neighboring gene RAS protein activator like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14190 Neighboring gene peptidoglycan recognition protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15618980-15619480 Neighboring gene staufen double-stranded RNA binding protein 1 pseudogene Neighboring gene MPRA-validated peak3387 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14191 Neighboring gene cytochrome P450 family 4 subfamily F member 23, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10285 Neighboring gene uncharacterized LOC124904644

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development. Sasaki K, et al. J Dermatol Sci, 2012 Feb. PMID 22209317
    2. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Fischer J, et al. Am J Hum Genet, 2000 Mar. PMID 10712205, Free PMC Article
    3. Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. Virolainen E, et al. Am J Hum Genet, 2000 Mar. PMID 10712223, Free PMC Article
    4. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Lefèvre C, et al. Hum Mol Genet, 2006 Mar 1. PMID 16436457
    5. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. Elias PM, et al. J Lipid Res, 2008 Apr. PMID 18245815, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.
      Title: Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.
    2. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry.
      Title: Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
    3. Study reports a consanguineous family from Southern Tunisia including three members affected with congenital ichthyosis likely due to a novel missense mutation c.728G>T (p.Arg243Leu) in exon 8 of CYP4F2.
      Title: A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
    4. we provide an up-to-date overview of all published and novel CYP4F22 mutations and point out possible mutation hot spots. We discuss the molecular and clinical findings, the genotype-phenotype correlations and consequences on genetic testing.
      Title: Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
    5. patients carrying one or two truncating CYP4F22 mutations affecting the SBRs tend to develop collodion membrane at birth
      Title: Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.
    6. We report two cases of Congenital Ichthyosiform Erythroderma showing homozygous mutations in the gene CYP4F22.
      Title: Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
    7. description of CYP4F22 mutations from a Japanese collodion baby with lamellar ichthyosis [case report]
      Title: Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.
    8. Letter: CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.
      Title: CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.
    9. REVIEW: genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti's crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis
      Title: Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive congenital ichthyosis 5
    MedGen: C1858133 OMIM: 604777 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39501

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monooxygenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in icosanoid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ultra-long-chain fatty acid omega-hydroxylase
    Names
    cytochrome P450 4F22
    cytochrome P450, family 2, subfamily E, polypeptide 2 homolog
    cytochrome P450, family 4, subfamily F, polypeptide 22
    NP_775754.2
    XP_011525994.1
    XP_011525995.1
    XP_054175788.1
    XP_054175789.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007987.1 RefSeqGene

      Range
      5001..48793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173483.4 → NP_775754.2  ultra-long-chain fatty acid omega-hydroxylase

      See identical proteins and their annotated locations for NP_775754.2

      Status: REVIEWED

      Source sequence(s)
      AC011492, AI341068, BC069351, DA874258
      Consensus CDS
      CCDS12331.1
      UniProtKB/Swiss-Prot
      Q6NT55, Q8N8H4
      UniProtKB/TrEMBL
      A0A1B1SMS2
      Related
      ENSP00000269703.1, ENST00000269703.8
      Conserved Domains (1) summary
      pfam00067
      Location:60 → 524
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      15508525..15552317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527692.3 → XP_011525994.1  ultra-long-chain fatty acid omega-hydroxylase isoform X1

      See identical proteins and their annotated locations for XP_011525994.1

      UniProtKB/Swiss-Prot
      Q6NT55, Q8N8H4
      UniProtKB/TrEMBL
      A0A1B1SMS2
      Conserved Domains (1) summary
      pfam00067
      Location:60 → 524
      p450; Cytochrome P450

    2. XM_011527693.3 → XP_011525995.1  ultra-long-chain fatty acid omega-hydroxylase isoform X1

      See identical proteins and their annotated locations for XP_011525995.1

      UniProtKB/Swiss-Prot
      Q6NT55, Q8N8H4
      UniProtKB/TrEMBL
      A0A1B1SMS2
      Conserved Domains (1) summary
      pfam00067
      Location:60 → 524
      p450; Cytochrome P450

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      15633518..15677350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319813.1 → XP_054175788.1  ultra-long-chain fatty acid omega-hydroxylase isoform X1

      UniProtKB/Swiss-Prot
      Q6NT55, Q8N8H4

    2. XM_054319814.1 → XP_054175789.1  ultra-long-chain fatty acid omega-hydroxylase isoform X1

      UniProtKB/Swiss-Prot
      Q6NT55, Q8N8H4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NT55.1 GenPept UniProtKB/Swiss-Prot:Q6NT55

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