Gene table of DHCR7 : 7-dehydrocholesterol reductase

Gene-disease associations table

Disease IDDisease nameSource of annotation with DHCR7OMIM linkNumber of associated genesgenes
270400SMITH-LEMLI-OPITZ SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1DHCR7

Download the gene annotation in CSV format

Annotation of the gene DHCR7

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Steroid biosynthesishsa001008.45
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Regulation of cholesterol biosynthesis by SREBP (SREBF)R-HSA-16558297.23
Cholesterol biosynthesisR-HSA-1912738.46
MetabolismR-HSA-14307282.34
Activation of gene expression by SREBF (SREBP)R-HSA-24261687.62
Associated GO terms for Molecular function
GO termGO IDGO IC
7-dehydrocholesterol reductase activityGO:00475989.74
oxidoreductase activity, acting on the CH-CH group of donorsGO:00166275.66
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptorGO:00166286.56
catalytic activityGO:00038241.05
oxidoreductase activityGO:00164913.12