Entity Details
| Primary name |
DHCR7_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9UBM7 |
| EntryName | DHCR7_HUMAN |
| FullName | 7-dehydrocholesterol reductase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 475 |
| SequenceStatus | complete |
| DateCreated | 2002-01-31 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum membrane |
Domains
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| Domain | Name | Category | Type |
| IPR001171 | Ergosterol biosynthesis ERG4/ERG24 | Family | Family |
| IPR018083 | Sterol reductase, conserved site | Site | Conserved site |
Diseases
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| Disease ID | Source | Name | Description |
| 270400 | OMIM | Smith-Lemli-Opitz syndrome (SLOS) | An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00157 | NADH | Drugbank | small molecule |
Interactions
2 interactions