| Protein Name | 7-dehydrocholesterol reductase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1717 |
| Gene Symbol | DHCR7 |
| UniProt | Q9UBM7 (DHCR7_HUMAN), A0A024R5F7 (A0A024R5F7_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
57
Total Number of Articles : 188 |
Description |
7-dehydrocholesterol reductase |
| Gene Summary |
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] |
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