| Protein Name | sterol-C5-desaturase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 6309 |
| Gene Symbol | SC5D |
| UniProt | O75845 (SC5D_HUMAN), A0A024R3G4 (A0A024R3G4_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
18
Total Number of Articles : 15 |
Description |
sterol-C5-desaturase |
| Gene Summary |
This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] |
| synonyms |
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| Properties | |