Protein Variants | Comment | Organism |
---|---|---|
T93M | naturally occuring mutation involved in Dhcr7 deficiency and the Smith-Lemli-Opitz syndrome, overview | Mus musculus |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Mus musculus | - |
- |
- |
Mus musculus C57BL/6 | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
hair | sterol spectra in hair from wild-type and Dhcr7 mutant mice, overview | Mus musculus | - |
skin | - |
Mus musculus | - |
Synonyms | Comment | Organism |
---|---|---|
Dhcr7 | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
additional information | dehydrosterol reductase, DHCR7, deficiency is associated with Smith-Lemli-Opitz syndrome, phenotype, overview. In DHCR7 deficient mice, dehydrodesmosterol, a uniquely major sterol component in hair, is the dominant hair DELTA7 sterol | Mus musculus |