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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.
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| Protein type: Membrane protein, integral; Oxidoreductase; EC 1.3.1.21; Lipid Metabolism - steroid biosynthesis |
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Cellular Component: nuclear outer membrane; endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane
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Molecular Function: 7-dehydrocholesterol reductase activity
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Biological Process: blood vessel development; regulation of cholesterol biosynthetic process; multicellular organism growth; cell differentiation; cholesterol biosynthetic process; lung development; post-embryonic development; regulation of cell proliferation
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Reference #:
Q9UBM7 (UniProtKB)
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| 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 |
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Molecular weight: 54,489 Da
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Basal Isoelectric point: 8.95
Predict pI for various phosphorylation states
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