CYP4F22 encodes cytochrome P450 family 4 subfamily F member 22 (531 aa). A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Highest expression in Skin Sun Exposed Lower leg (95.0 TPM) and Skin Not Sun Exposed Suprapubic (79.0 TPM).

Autosomal recessive congenital ichthyosis 5 is associated with mutations in the CYP4F22 gene on chromosome 19.

The CYP4F22 protein participates in CYP4F22 20-hydroxylates TrXA3, Defective CYP4F22 does not 20-hydroxylate TrXA3, and Defective CYP4F22 causes ARCI5 pathways.

CYP4F22 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 0.0.

Genetic testing for CYP4F22 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive congenital ichthyosis 5 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 common feature.

No clinical trials have been registered for autosomal recessive congenital ichthyosis 5.

13 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 5. Research spans Case Report / Case Series (46%), Basic Science / Preclinical (38%), and Diagnostic / Biomarker (8%).

Recent Publications

• Johar R (2025). [PMID: 40607310](https://pubmed.ncbi.nlm.nih.gov/40607310/). *The journal of allergy and clinical immunology. Global*. [Case Report / Case Series]

• Vinberg C (2025). [PMID: 41057024](https://pubmed.ncbi.nlm.nih.gov/41057024/). *Animal genetics*. [Case Report / Case Series]

• Schratter M (2025). [PMID: 40818613](https://pubmed.ncbi.nlm.nih.gov/40818613/). *Journal of lipid research*. [Review / Meta-Analysis]

• Mocarska M (2025). [PMID: 40899446](https://pubmed.ncbi.nlm.nih.gov/40899446/). *Journal of mother and child*. [Case Report / Case Series]

• Roche-Gomez A (2025). [PMID: 40471236](https://pubmed.ncbi.nlm.nih.gov/40471236/). *Pediatric nephrology (Berlin, Germany)*. [Case Report / Case Series]

• Sefer AP (2025). [PMID: 41346588](https://pubmed.ncbi.nlm.nih.gov/41346588/). *Frontiers in immunology*. [Basic Science / Preclinical]

• Frommherz L (2025). [PMID: 38741524](https://pubmed.ncbi.nlm.nih.gov/38741524/). *Journal of the European Academy of Dermatology and Venereology : JEADV*. [Basic Science / Preclinical]

• Guan Y (2025). [PMID: 41080545](https://pubmed.ncbi.nlm.nih.gov/41080545/). *Frontiers in immunology*. [Case Report / Case Series]

• Fukaura R (2025). [PMID: 39907505](https://pubmed.ncbi.nlm.nih.gov/39907505/). *Acta dermato-venereologica*. [Basic Science / Preclinical]

• Fioretti T (2024). [PMID: 38791074](https://pubmed.ncbi.nlm.nih.gov/38791074/). *Biomedicines*. [Diagnostic / Biomarker]