DHCR7 Back

7-dehydrocholesterol reductase

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of DHCR7
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.

Community Annotation of DHCR7 Add / Edit DHCR7: Annotations

No community annotations yet for DHCR7.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

DHCR7 is highly significantly mutated in
(none)
DHCR7 is significantly mutated in
(none)
DHCR7 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for DHCR7