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MGP002752

UniProt Annotations

Entry Information
Gene Namesterol-C5-desaturase
Protein EntrySC5D_HUMAN
UniProt IDO75845
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O(2) = cholesta-5,7-dien-3-beta-ol + NAD(P)(+) + 2 H(2)O.
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000250};
DiseaseLathosterolosis (LATHST) [MIM:607330]: Autosomal recessive disorder characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. {ECO:0000269|PubMed:12189593, ECO:0000269|PubMed:12812989}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe histidine box domains may contain the active site and/or be involved in metal ion binding.
FunctionCatalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.
SimilarityBelongs to the sterol desaturase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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