CYP4F22
Cytochrome P450 Family 4 Subfamily F Member 22
Gene Information Card
| Symbol | CYP4F22 |
|---|---|
| Full Name | Cytochrome P450 Family 4 Subfamily F Member 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 126410 ncbi.nlm.nih.gov/gene/126410 |
| Ensembl ID | ENSG00000171954 |
| UniProt ID | Q6NT55 |
| OMIM ID | 611495 |
| HGNC ID | 26420 |
| Aliases | CYP4F22, FLJ39502, MGC138290 |
Description
CYP4F22 encodes a member of the cytochrome P450 family 4 subfamily F, involved in omega-hydroxylation of very long-chain fatty acids, critical for epidermal barrier formation. Mutations in this gene cause autosomal recessive congenital ichthyosis (ARCI) type 5.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive congenital ichthyosis 5 (ARCI5) | Loss-of-function mutations impair omega-hydroxylation of ultra-long-chain fatty acids, disrupting lipid barrier formation in the stratum corneum. | OMIM #604777; ClinVar pathogenic variants |
| Lamellar ichthyosis | Biallelic CYP4F22 mutations lead to defective epidermal lipid processing, resulting in scaling and hyperkeratosis. | ClinVar; NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Esophagus | 8.1 | Low |
| Lung | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 18.5 | High expression in primary keratinocytes |
| HaCaT | 12.3 | Immortalized keratinocyte line |
| A549 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1027C>T (p.Arg343*) | Nonsense | <0.01% | Loss of function; associated with ARCI5 |
| c.1303G>A (p.Gly435Arg) | Missense | <0.01% | Impaired enzyme activity; pathogenic in ARCI |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of translation initiation; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most reported CYP4F22 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to reduced or absent omega-hydroxylase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • omega-hydroxylase activity | • arachidonic acid omega-hydroxylase activity |
| • heme binding | • iron ion binding |
| • oxidoreductase activity | • fatty acid omega-hydroxylase activity |
Pathways
• Fatty acid omega-oxidation
• Epidermal ceramide biosynthesis
• Cytochrome P450 metabolism
Protein Summary
CYP4F22 is a microsomal cytochrome P450 monooxygenase that catalyzes omega-hydroxylation of very long-chain fatty acids (C26-C38), essential for the synthesis of acylceramides in the skin barrier. The protein localizes to the endoplasmic reticulum and is highly expressed in keratinocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP4F22 Knockout HEK293 Cell Line | EDJ-KQ8916 | Human | 126410 | Details Get a Quote |
| CYP4F22 Knockout HCT 116 Cell Line | EDJ-KQ35257 | Human | 126410 | Details Get a Quote |
| CYP4F22 Knockout HeLa Cell Line | EDJ-KQ58177 | Human | 126410 | Details Get a Quote |
| CYP4F22 Knockout A-549 Cell Line | EDJ-KQ66666 | Human | 126410 | Details Get a Quote |
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