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

• Q9UBM7
• B2R6Z2
• O60492
• O60717
• 7-DHC reductase

Gene Name

• DHCR7

Ensembl ID

• ENST00000355527
• ENSP00000347717
• ENSG00000172893
• ENST00000407721
• ENSP00000384739

Symbol

• D7SR
• SLOS

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

Protein Classes

PANTHER Classes

Protein / Receptor / 7-dehydrocholesterol Reductase

Protein / Oxidoreductase / Reductase / 7-dehydrocholesterol Reductase

DTO Classes

Protein / Enzyme / Oxidoreductase / Reductase / 7-dehydrocholesterol Reductase

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: 74   (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: 74   (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