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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CYP4F22
cytochrome P450 family 4 subfamily F member 22
Chromosome 19 Β· 19p13.12
NCBI Gene: 126410Ensembl: ENSG00000171954.14HGNC: HGNC:26820UniProt: Q6NT55
21PubMed Papers
21Diseases
0Drugs
56Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ceramide biosynthetic processendoplasmic reticulum membraneprotein bindingmonooxygenase activitylamellar ichthyosisautosomal recessive congenital ichthyosisplacenta praeviagenetic disorder
✦AI Summary

CYP4F22 is a cytochrome P450 monooxygenase localized to the endoplasmic reticulum that catalyzes omega-hydroxylation of ultra-long-chain fatty acyls (C28-C36), a critical step in epidermal ceramide biosynthesis. The enzyme inserts one oxygen atom into substrate fatty acids while reducing the second oxygen to water, with electrons supplied via NADPH and cytochrome P450 reductase 1. CYP4F22 contributes to synthesis of three classes of omega-hydroxy-ultra-long chain fatty acylceramides with different sphingoid bases, all essential lipid components of the stratum corneum permeability barrier 1. Loss-of-function mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI), a heterogeneous keratinization disorder characterized by generalized abnormal skin scaling 234. To date, mutations in CYP4F22 account for approximately 16% of ARCI cases 5. CYP4F22-mutated patients display relatively mild disease severity compared to mutations in other ARCI genes like TGM1 and ABCA12 5. Recent studies demonstrate that some pathogenic CYP4F22 mutations reduce protein expression but can be partially recovered by histone deacetylase inhibitors like trichostatin A, suggesting potential therapeutic approaches 6.

Sources cited
1
CYP4F22 catalyzes omega-hydroxylation of ultra-long-chain fatty acyls and contributes to ceramide synthesis critical for skin barrier function
PMID: 26056268
2
CYP4F22 is one of ten genes associated with autosomal recessive congenital ichthyosis
PMID: 33435499
3
CYP4F22 mutations are linked to lamellar ichthyosis disease states
PMID: 21540472
4
CYP4F22 is one of six genes associated with autosomal recessive congenital ichthyosis
PMID: 23562412
5
Pathogenic CYP4F22 mutations reduce protein expression but can be partially recovered by trichostatin A treatment
PMID: 35014717
6
CYP4F22 mutations account for 16.2% of ARCI cases and show lower disease severity compared to TGM1 and ABCA12
PMID: 38588653
Disease Associationsβ“˜21
lamellar ichthyosisOpen Targets
0.74Strong
autosomal recessive congenital ichthyosisOpen Targets
0.38Weak
placenta praeviaOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
ichthyosisOpen Targets
0.15Weak
congenital reticular ichthyosiform erythrodermaOpen Targets
0.15Weak
atopic eczemaOpen Targets
0.15Weak
bladder exstrophyOpen Targets
0.12Weak
Down syndromeOpen Targets
0.06Suggestive
erythrokeratodermia variabilisOpen Targets
0.05Suggestive
diffuse nonepidermolytic palmoplantar keratodermaOpen Targets
0.05Suggestive
ulerythema ophryogenesisOpen Targets
0.04Suggestive
ichthyosis, congenital, autosomal recessive 14Open Targets
0.04Suggestive
autosomal dominant epidermolytic ichthyosisOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
peeling skin syndrome 6Open Targets
0.04Suggestive
ichthyosis with erythrokeratodermaOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.04Suggestive
ichthyosis, annular epidermolytic, 2Open Targets
0.04Suggestive
Ichthyosis, congenital, autosomal recessive 5UniProt
Pathogenic Variants56
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2026β†’ Residue 435
NM_173483.4(CYP4F22):c.296G>A (p.Trp99Ter)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 99
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2025β†’ Residue 243
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp)Likely pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2025β†’ Residue 372
NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2025β†’ Residue 362
NM_173483.4(CYP4F22):c.223-10C>GLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 156
NM_173483.4(CYP4F22):c.59dup (p.Ile21fs)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 5
β˜…β˜…β˜†β˜†2024β†’ Residue 21
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)Pathogenic
Autosomal recessive congenital ichthyosis 5|CYP4F22-related disorder|not provided|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2024β†’ Residue 59
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2024β†’ Residue 362
NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 5
β˜…β˜…β˜†β˜†2024β†’ Residue 326
NM_173483.4(CYP4F22):c.429dup (p.Leu144fs)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2023β†’ Residue 144
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2022β†’ Residue 243
NM_173483.4(CYP4F22):c.982G>A (p.Glu328Lys)Likely pathogenic
Lamellar ichthyosis
β˜…β˜†β˜†β˜†2025β†’ Residue 328
NM_173483.4(CYP4F22):c.1419-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_173483.4(CYP4F22):c.1207_1208del (p.Thr403fs)Pathogenic
Lamellar ichthyosis
β˜…β˜†β˜†β˜†2025β†’ Residue 403
NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β˜…β˜†β˜†β˜†2025β†’ Residue 81
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 223
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β˜…β˜†β˜†β˜†2024β†’ Residue 282
NM_173483.4(CYP4F22):c.922dup (p.Val308fs)Likely pathogenic
Autosomal recessive congenital ichthyosis 5
β˜…β˜†β˜†β˜†2024β†’ Residue 308
View on ClinVar β†—
Related Genes
TGM1Protein interaction92%ABCA12Protein interaction92%ALOXE3Protein interaction92%LIPNProtein interaction87%PNPLA1Protein interaction77%NIPAL4Protein interaction77%
Tissue Expression6 tissues
Liver
100%
Lung
2%
Bone Marrow
2%
Ovary
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CYP4F22TGM1ABCA12ALOXE3LIPNPNPLA1NIPAL4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6NT55
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.45–0.77]
RankingsWhere CYP4F22 stands among ~20K protein-coding genes
  • #13,880of 20,598
    Most Researched21
  • #1,235of 5,498
    Most Pathogenic Variants56 Β· top quartile
  • #6,191of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedCYP4F22
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Meta-Analysis of Mutations in
PMID: 33435499
Genes (Basel) Β· 2021
1.00
2
Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
PMID: 21540472
Mol Interv Β· 2011
0.90
3
Whole-exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein.
PMID: 35014717
J Dermatol Β· 2022
0.80
4
Autosomal recessive congenital ichthyosis.
PMID: 23562412
Actas Dermosifiliogr Β· 2013
0.70
5
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
PMID: 30011118
Hum Mutat Β· 2018
0.60