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MGP000826

UniProt Annotations

Entry Information
Gene Name7-dehydrocholesterol reductase
Protein EntryDHCR7_HUMAN
UniProt IDQ9UBM7
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCholesterol + NADP(+) = cholesta-5,7-dien-3- beta-ol + NADPH.
DiseaseSmith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: 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. {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:10995508, ECO:0000269|PubMed:11175299, ECO:0000269|PubMed:11427181, ECO:0000269|PubMed:12949967, ECO:0000269|PubMed:15954111, ECO:0000269|PubMed:9653161, ECO:0000269|PubMed:9683613}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionProduction of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
PathwaySteroid biosynthesis; cholesterol biosynthesis.
SimilarityBelongs to the ERG4/ERG24 family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:9878250}; Multi-pass membrane protein {ECO:0000269|PubMed:9878250}.
Tissue SpecificityMost abundant in adrenal gland, liver, testis, and brain. {ECO:0000269|PubMed:9878250}.
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