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Tchem
DHCR7
7-dehydrocholesterol reductase

Protein Summary
Description
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). 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 cognitive disability, 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.[provided by RefSeq, Aug 2009]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000355527
  • ENSP00000347717
  • ENSG00000172893
  • ENST00000407721
  • ENSP00000384739

Symbol
  • D7SR
  • SLOS
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
interacting protein
0.93
disease perturbation
0.83
gene perturbation
0.79
kinase perturbation
0.76
histone modification site profile
0.73


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 346.46   (req: < 5)
Gene RIFs: 56   (req: <= 3)
Antibodies: 150   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 346.46   (req: >= 5)
Gene RIFs: 56   (req: > 3)
Antibodies: 150   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 3
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1