Pub. Date : 2017 May
PMID : 26976653
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Delta7-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |
| 2 | Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Delta7-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |