Pub. Date : 2000 Feb
PMID : 10677299
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Mutations in the gene for Delta7-sterol reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis in the endoplasmic reticulum (ER), cause SLOS. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |
2 | Homozygosity for 0 mutations in DHCR7 appears compatible with life, suggesting that cholesterol may be synthesized in the absence of this enzyme or that exogenous sources of cholesterol can be used. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |
3 | Homozygosity for 0 mutations in DHCR7 appears compatible with life, suggesting that cholesterol may be synthesized in the absence of this enzyme or that exogenous sources of cholesterol can be used. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |