Application | Comment | Organism |
---|---|---|
medicine | Smith-Lemli-Opitz syndrome is caused not only by disruption of the enzymatic role of 7-dehydrocholesterol reductase as a reductase in cholesterol biosynthesis, but may also involve defects in enzyme resulting in derepression of Sonic Hedgehog signaling | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Xenopus laevis | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
embryo | coexpression of enzyme and Sonic Hedgehog, Shh, during midline development in embryo. Enzyme functions as an negative regulator in Hedghog signaling at the level or downstream of Smoothend and affects intracellular Hedgehog signaling | Xenopus laevis | - |