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... See more...

Aliases for CYP4F22 Gene

Aliases for CYP4F22 Gene

  • Cytochrome P450 Family 4 Subfamily F Member 22 2 3 5
  • Cytochrome P450, Family 4, Subfamily F, Polypeptide 22 2 3
  • Cytochrome P450 4F22 3 4
  • Cytochrome P450, Family 2, Subfamily E, Polypeptide 2 Homolog 3
  • EC 1.14.14.- 4
  • FLJ39501 2
  • CYP4F22 5
  • ARCI5 3
  • INLNE 3
  • LI3 3

External Ids for CYP4F22 Gene

Previous GeneCards Identifiers for CYP4F22 Gene

  • GC19P015484
  • GC19P015619
  • GC19P015187

Summaries for CYP4F22 Gene

Entrez Gene Summary for CYP4F22 Gene

  • 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]

GeneCards Summary for CYP4F22 Gene

CYP4F22 (Cytochrome P450 Family 4 Subfamily F Member 22) is a Protein Coding gene. Diseases associated with CYP4F22 include Ichthyosis, Congenital, Autosomal Recessive 5 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Cytochrome P450 - arranged by substrate type and Arachidonic acid metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP4F3.

UniProtKB/Swiss-Prot Summary for CYP4F22 Gene

  • A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega-hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesis (PubMed:26056268). Contributes to the synthesis of three classes of omega-hydroxy-ultra-long chain fatty acylceramides having sphingosine, 6-hydroxysphingosine and phytosphingosine bases, all major lipid components that underlie the permeability barrier of the stratum corneum (PubMed:26056268). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:26056268).

Gene Wiki entry for CYP4F22 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP4F22 Gene

Genomics for CYP4F22 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP4F22 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J015508 Promoter 0.8 Ensembl 250.7 +0.2 214 1 SP2 PRDM10 ZNF48 GLIS1 KLF1 SP3 EZH2 PATZ1 GLIS2 ZFHX2 CYP4F22 RASAL3 lnc-PGLYRP2-2 CYP4F8 lnc-OR7C2-1
GH19J015499 Enhancer 0.8 FANTOM5 ENCODE 14.4 -9.2 -9249 0.3 ZIC2 SP2 PKNOX1 GLIS1 REST SP1 CREB1 SP3 EGR2 PRDM10 PGLYRP2 CYP4F22 CYP4F2 CYP4F3 CYP4F11 OR10H4 OR1I1 RF00017-2584 lnc-OR7C2-1
GH19J015550 Enhancer 0.7 ENCODE 13 +43.2 43201 0.2 ATF2 NFIC KLF9 SP2 GABPB1 ZSCAN5A MXD3 SP1 NRF1 ZNF48 CYP4F22 PGLYRP2 RASAL3 AKAP8L CYP4F11 HSALNG0124382 RF00017-2586 CYP4F8 lnc-OR7C2-1
GH19J015514 Enhancer 0.5 ENCODE 7 +6.4 6448 1.5 YY1 RXRA RAD21 HNF4A REST MAX SP1 ATF3 ENSG00000269765 LOC100422106 lnc-PGLYRP2-2 CYP4F22 CYP4F8 lnc-OR7C2-1
GH19J015544 Enhancer 0.5 Ensembl 6.8 +35.9 35914 0.4 MAFF ZNF316 MAFK MAFG EMSY CYP4F22 RF00017-2586 HSALNG0124382 CYP4F8 lnc-OR7C2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP4F22 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP4F22

Top Transcription factor binding sites by QIAGEN in the CYP4F22 gene promoter:
  • AML1a
  • ATF-2
  • c-Jun
  • GATA-1
  • p53
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for CYP4F22 Gene

Latest Assembly
chr19:15,508,487-15,552,317
(GRCh38/hg38)
Size:
43,831 bases
Orientation:
Plus strand

Previous Assembly
chr19:15,619,336-15,663,128
(GRCh37/hg19 by Entrez Gene)
Size:
43,793 bases
Orientation:
Plus strand

chr19:15,619,304-15,663,128
(GRCh37/hg19 by Ensembl)
Size:
43,825 bases
Orientation:
Plus strand

Genomic View for CYP4F22 Gene

Genes around CYP4F22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP4F22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP4F22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP4F22 Gene

Proteins for CYP4F22 Gene

  • Protein details for CYP4F22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NT55-CP4FN_HUMAN
    Recommended name:
    Cytochrome P450 4F22
    Protein Accession:
    Q6NT55
    Secondary Accessions:
    • Q8N8H4

    Protein attributes for CYP4F22 Gene

    Size:
    531 amino acids
    Molecular mass:
    61958 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP4F22 Gene

Post-translational modifications for CYP4F22 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP4F22 Gene

No data available for DME Specific Peptides for CYP4F22 Gene

Domains & Families for CYP4F22 Gene

Gene Families for CYP4F22 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for CYP4F22 Gene

Suggested Antigen Peptide Sequences for CYP4F22 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome P450 4F22 (CP4FN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NT55

UniProtKB/Swiss-Prot:

CP4FN_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP4F22: view

Function for CYP4F22 Gene

Molecular function for CYP4F22 Gene

UniProtKB/Swiss-Prot Function:
A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega-hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesis (PubMed:26056268). Contributes to the synthesis of three classes of omega-hydroxy-ultra-long chain fatty acylceramides having sphingosine, 6-hydroxysphingosine and phytosphingosine bases, all major lipid components that underlie the permeability barrier of the stratum corneum (PubMed:26056268). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:26056268).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + reduced [NADPH--hemoprotein reductase] + triacontanoate = H(+) + H2O + omega-hydroxy-triacontanoate + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:50336, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:31004, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:76044; Evidence={ECO:0000269|PubMed:26056268};.

Enzyme Numbers (IUBMB) for CYP4F22 Gene

Phenotypes From GWAS Catalog for CYP4F22 Gene

Gene Ontology (GO) - Molecular Function for CYP4F22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 32296183
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP4F22: view
genes like me logo Genes that share phenotypes with CYP4F22: view

Human Phenotype Ontology for CYP4F22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for CYP4F22 Gene

miRTarBase miRNAs that target CYP4F22

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP4F22

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CYP4F22 Gene

Localization for CYP4F22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP4F22 Gene

Endoplasmic reticulum membrane. Single-pass type I membrane protein. Microsome membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP4F22 gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CYP4F22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with CYP4F22: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP4F22 Gene

Pathways & Interactions for CYP4F22 Gene

genes like me logo Genes that share pathways with CYP4F22: view

Pathways by source for CYP4F22 Gene

Gene Ontology (GO) - Biological Process for CYP4F22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006690 icosanoid metabolic process TAS --
GO:0046513 ceramide biosynthetic process IMP 26056268
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYP4F22: view

No data available for SIGNOR curated interactions for CYP4F22 Gene

Drugs & Compounds for CYP4F22 Gene

(7) Drugs for CYP4F22 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
arachidonic acid Experimental Pharma 41
NADP Experimental Pharma 0
NADPH Experimental Pharma 0

(3) Additional Compounds for CYP4F22 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
20-Hydroxyeicosatetraenoic acid
  • (5Z,8Z,11Z,14Z)-20-Hydroxyicosa-5,8,11,14-tetraenoic acid
  • 20-Hydroxy arachidonic acid
  • 20-Hydroxyarachidonic acid
  • 20-Hydroxyicosatetraenoic acid
  • (5Z,8Z,11Z,14Z)-20-Hydroxyicosa-5,8,11,14-tetraenoate
79551-86-3
20-Hydroxy-leukotriene B4
  • (6Z,8E,10E,14Z)-(5S,12R)-5,12,20-Trihydroxyeicosa-6,8,10,14-tetraenoate
  • (6Z,8E,10E,14Z)-(5S,12R)-5,12,20-Trihydroxyicosa-6,8,10,14-tetraenoate
  • 20-Hydroxy-LTB4
  • 20-OH-Leukotriene b4
  • 20-OH-LTB4
79516-82-8
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with CYP4F22: view

Transcripts for CYP4F22 Gene

mRNA/cDNA for CYP4F22 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP4F22

Alternative Splicing Database (ASD) splice patterns (SP) for CYP4F22 Gene

No ASD Table

Relevant External Links for CYP4F22 Gene

GeneLoc Exon Structure for
CYP4F22

Expression for CYP4F22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP4F22 Gene

mRNA differential expression in normal tissues according to GTEx for CYP4F22 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x16.0), Skin - Not Sun Exposed (Suprapubic) (x12.3), Vagina (x5.5), and Esophagus - Mucosa (x4.8).

Protein differential expression in normal tissues from HIPED for CYP4F22 Gene

This gene is overexpressed in Cervix (38.1) and Urine (28.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP4F22 Gene



Protein tissue co-expression partners for CYP4F22 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP4F22

SOURCE GeneReport for Unigene cluster for CYP4F22 Gene:

Hs.156452

Evidence on tissue expression from TISSUES for CYP4F22 Gene

  • Skin(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP4F22 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
Regions:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • outer ear
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with CYP4F22: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYP4F22 Gene

Orthologs for CYP4F22 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP4F22 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC455798 29
  • 99.25 (n)
CYP4F22 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP4F22 30
  • 93 (a)
OneToOne
LOC100301224 29
  • 88.7 (n)
Dog
(Canis familiaris)
Mammalia CYP4F22 29 30
  • 88.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cyp4f39 29 16 30
  • 82.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp4f39 29
  • 82.93 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CYP4F22 30
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CYP4F22 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 69 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 68 (a)
ManyToMany
-- 30
  • 63 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cyp4f22 29
  • 65.27 (n)
Str.8475 29
Zebrafish
(Danio rerio)
Actinopterygii cyp4f3 30
  • 47 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CYP735A1 29
  • 41.99 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0403300 29
  • 46.92 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3998 30
  • 42 (a)
ManyToMany
-- 30
  • 42 (a)
ManyToMany
-- 30
  • 41 (a)
ManyToMany
-- 30
  • 40 (a)
ManyToMany
-- 30
  • 38 (a)
ManyToMany
-- 30
  • 38 (a)
ManyToMany
-- 30
  • 38 (a)
ManyToMany
-- 30
  • 38 (a)
ManyToMany
CSA.6060 30
  • 38 (a)
ManyToMany
CSA.8060 30
  • 38 (a)
ManyToMany
-- 30
  • 37 (a)
ManyToMany
-- 30
  • 37 (a)
ManyToMany
-- 30
  • 36 (a)
ManyToMany
-- 30
  • 31 (a)
ManyToMany
-- 30
  • 31 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2108 29
Species where no ortholog for CYP4F22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CYP4F22 Gene

ENSEMBL:
Gene Tree for CYP4F22 (if available)
TreeFam:
Gene Tree for CYP4F22 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP4F22: view image
Alliance of Genome Resources:
Additional Orthologs for CYP4F22

Paralogs for CYP4F22 Gene

(13) SIMAP similar genes for CYP4F22 Gene using alignment to 1 proteins:

  • CP4FN_HUMAN
genes like me logo Genes that share paralogs with CYP4F22: view

Variants for CYP4F22 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP4F22 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1030320 Uncertain Significance: Autosomal recessive congenital ichthyosis 5 15,537,583(+) G/A
NM_173483.4(CYP4F22):c.470G>A (p.Arg157His)
MISSENSE
870875 Uncertain Significance: not provided 15,544,159(+) C/A
NM_173483.4(CYP4F22):c.1016C>A (p.Thr339Lys)
MISSENSE
888789 Likely Benign: Autosomal recessive congenital ichthyosis 5 15,540,563(+) G/A
NM_173483.4(CYP4F22):c.785G>A (p.Arg262Gln)
MISSENSE
888876 Uncertain Significance: Autosomal recessive congenital ichthyosis 5 15,552,083(+) C/A
NM_173483.4(CYP4F22):c.*612C>A
THREE_PRIME_UTR
890419 Uncertain Significance: Autosomal recessive congenital ichthyosis 5 15,525,425(+) T/C
NM_173483.4(CYP4F22):c.89T>C (p.Phe30Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP4F22 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYP4F22 Gene

Variant ID Type Subtype PubMed ID
dgv3443n100 CNV gain 25217958
esv1000418 CNV deletion 20482838
nsv1057788 CNV loss 25217958
nsv1064684 CNV gain 25217958
nsv1131405 CNV deletion 24896259
nsv963013 CNV duplication 23825009

Variation tolerance for CYP4F22 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP4F22 Gene

Human Gene Mutation Database (HGMD)
CYP4F22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP4F22
Leiden Open Variation Database (LOVD)
CYP4F22

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP4F22 Gene

Disorders for CYP4F22 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CYP4F22 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP4FN_HUMAN
  • Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:16436457, ECO:0000269 PubMed:26056268}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CYP4F22

genes like me logo Genes that share disorders with CYP4F22: view

No data available for Genatlas for CYP4F22 Gene

Publications for CYP4F22 Gene

  1. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. (PMID: 16436457) Lefèvre C … Fischer J (Human molecular genetics 2006) 2 3 4 72
  2. Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. (PMID: 30011118) Hotz A … Fischer J (Human mutation 2018) 3 72
  3. Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation. (PMID: 26056268) Ohno Y … Kihara A (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4
  4. Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. (PMID: 23871423) Sugiura K … Akiyama M (Journal of dermatological science 2013) 3 72
  5. Autosomal Recessive Congenital Ichthyosis (PMID: 20301593) Richard G (GeneReviews® 2001) 3 72

Products for CYP4F22 Gene

Sources for CYP4F22 Gene