Pub. Date : 2006 Jun
PMID : 16687448
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Smith-Lemli-Opitz syndrome (SLOS) is caused by defects in 7-dehydrocholesterol reductase (DHCR7), an enzyme catalyzing the final step of cholesterol biosynthesis. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |
| 2 | DHCR7 has previously been implicated to function as a positive regulator of Hh signaling that acts to regulate the cholesterol adduction of Hh ligand or to affect Hh signaling in the responding cell. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |
| 3 | Our analysis also raises the possibility that the human condition SLOS is caused not only by disruption of the enzymatic role of DHCR7 as a reductase in cholesterol biosynthesis, but may also involve defects in DHCR7 resulting in derepression of Shh signaling. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |