LMPD Database

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LMP002707

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
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.
Subcellular LocationEndoplasmic reticulum membrane ; Multi-pass membrane protein .
Tissue SpecificityMost abundant in adrenal gland, liver, testis, and brain.