CYP26C1 Chromosome 10
Cytochrome P450 family 26 subfamily C member 1
Upload your DNA to see your personal genotypes for variants in CYP26C1.
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 enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 26
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000187553
Associated Conditions (3)
CYP26C1-related disorder
Focal facial dermal dysplasia type IV
Optic nerve hypoplasia
Key Variants
RS142943213
Conflicting classifications of pathogenicity
CYP26C1-related disorder, CYP26C1-related disorder
Health Risk
RS202104039
Conflicting classifications of pathogenicity
Focal facial dermal dysplasia type IV, Focal facial dermal dysplasia type IV
Health Risk
RS565866662
Conflicting classifications of pathogenicity
Optic nerve hypoplasia, Focal facial dermal dysplasia type IV, CYP26C1-related disorder
Health Risk
RS929909433
Likely pathogenic
Focal facial dermal dysplasia type IV, Focal facial dermal dysplasia type IV
Health Risk
RS1385227341
Pathogenic
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142943213 | Health Risk | Conflicting classifications of pathogenicity | CYP26C1-related disorder, CYP26C1-related disorder |
| RS202104039 | Health Risk | Conflicting classifications of pathogenicity | Focal facial dermal dysplasia type IV, Focal facial dermal dysplasia type IV |
| RS565866662 | Health Risk | Conflicting classifications of pathogenicity | Optic nerve hypoplasia, Focal facial dermal dysplasia type IV, CYP26C1-related disorder |
| RS929909433 | Health Risk | Likely pathogenic | Focal facial dermal dysplasia type IV, Focal facial dermal dysplasia type IV |
| RS1385227341 | Health Risk | Pathogenic | — |