The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the ultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development.[5]
All house
cats and
dogs have higher-than-usual activity of this enzyme, causing an inability to synthesize
vitamin D due to the lack of 7-dehydrocholesterol.[9]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD (Sep 2000). "Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping". American Journal of Medical Genetics. 94 (3): 214–27.
doi:
10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R.
PMID10995508.
Löffler J, Trojovsky A, Casati B, Kroisel PM, Utermann G (Nov 2000). "Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis". American Journal of Medical Genetics. 95 (2): 174–7.
doi:
10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9.
PMID11078571.
The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the ultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development.[5]
All house
cats and
dogs have higher-than-usual activity of this enzyme, causing an inability to synthesize
vitamin D due to the lack of 7-dehydrocholesterol.[9]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD (Sep 2000). "Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping". American Journal of Medical Genetics. 94 (3): 214–27.
doi:
10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R.
PMID10995508.
Löffler J, Trojovsky A, Casati B, Kroisel PM, Utermann G (Nov 2000). "Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis". American Journal of Medical Genetics. 95 (2): 174–7.
doi:
10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9.
PMID11078571.