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

Gene ID: 126410, updated on 27-Nov-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
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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
  • 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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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