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DHCR7 Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS); also known as SLO syndrome or RSH syndrome. SLOS is an autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from 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. Belongs to the ERG4/ERG24 family. Note: This description may include information from UniProtKB.
Protein type: EC; Lipid Metabolism - steroid biosynthesis; Membrane protein, integral; Membrane protein, multi-pass; Oxidoreductase
Chromosomal Location of Human Ortholog: 11q13.4
Cellular Component: cytosol; endoplasmic reticulum; endoplasmic reticulum membrane; integral to endoplasmic reticulum membrane; membrane; nuclear outer membrane
Molecular Function: 7-dehydrocholesterol reductase activity; NADP binding; sterol delta7 reductase activity
Biological Process: brassinosteroid biosynthetic process; cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol; regulation of cholesterol biosynthetic process
Disease: Smith-lemli-opitz Syndrome
Reference #:  Q9UBM7 (UniProtKB)
Alt. Names/Synonyms: 7-dehydrocholesterol reductase; 7-DHC reductase; D7SR; delta-7-dehydrocholesterol reductase; DHCR7; Putative sterol reductase SR-2; SLOS; Sterol Delta(7)-reductase; sterol delta-7-reductase
Gene Symbols: DHCR7
Molecular weight: 54,489 Da
Basal Isoelectric point: 8.95  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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