Pub. Date : 2016 Dec
PMID : 27861128
4 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. | Tretinoin | cytochrome P450 family 26 subfamily C member 1 | Homo sapiens |
| 2 | The variant p.Phe508Cys of the retinoic acid catabolizing enzyme CYP26C1 co-segregated with the SHOX variant p.Val161Ala in the affected individuals, while the SHOX mutant alone was present in asymptomatic individuals. | Tretinoin | cytochrome P450 family 26 subfamily C member 1 | Homo sapiens |
| 3 | Two further cases with SHOX deficiency and damaging CYP26C1 variants were identified in a cohort of 68 individuals with LWD The identified CYP26C1 variants affected its catabolic activity, leading to an increased level of retinoic acid. | Tretinoin | cytochrome P450 family 26 subfamily C member 1 | Homo sapiens |
| 4 | Two further cases with SHOX deficiency and damaging CYP26C1 variants were identified in a cohort of 68 individuals with LWD The identified CYP26C1 variants affected its catabolic activity, leading to an increased level of retinoic acid. | Tretinoin | cytochrome P450 family 26 subfamily C member 1 | Homo sapiens |