CYP4F22 Chromosome 19
Cytochrome P450 family 4 subfamily F member 22
Upload your DNA to see your personal genotypes for variants in CYP4F22.
What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 4
Locus Type
gene with protein product
Location
19p13.12
Ensembl
ENSG00000171954
Associated Conditions (5)
CYP4F22-related disorder
Autosomal recessive congenital ichthyosis 5
Inborn genetic diseases
Bladder exstrophy-epispadias-cloacal extrophy complex
Lamellar ichthyosis
Key Variants
RS1368806849
Conflicting classifications of pathogenicity
Health Risk
RS141382984
Conflicting classifications of pathogenicity
CYP4F22-related disorder, CYP4F22-related disorder
Health Risk
RS143506697
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
Health Risk
RS146026019
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 5, Inborn genetic diseases, Bladder exstrophy-epispadias-cloacal extrophy complex
Health Risk
RS147818390
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148402706
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148977089
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 5, CYP4F22-related disorder, Autosomal recessive congenital ichthyosis 5
Health Risk
RS150739429
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
Health Risk
RS184021211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS187004457
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 5, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 5
Health Risk
RS188702643
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
Health Risk
RS199641250
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199892192 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS200171674 | Health Risk | Pathogenic | — |
| RS2144518363 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS369811073 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 5 |
| RS370734976 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS531800013 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS745368359 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 5 |
| RS751937099 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS755885838 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS762667660 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS767352854 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 5 |
| RS770500550 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS773886415 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS774983507 | Health Risk | Pathogenic | — |
| RS776275777 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS118091316 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 5, CYP4F22-related disorder, Lamellar ichthyosis |
| RS1382435790 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 5 |
| RS768098854 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 5 |
| RS769229606 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 5 |