NP_001157289.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
Molecular Weight
54,489 Da
NCBI Official Full Name
7-dehydrocholesterol reductase
NCBI Official Synonym Full Names
7-dehydrocholesterol reductase
NCBI Official Synonym Symbols
NCBI Protein Information
7-dehydrocholesterol reductase; 7-DHC reductase; sterol delta-7-reductase; putative sterol reductase SR-2; delta-7-dehydrocholesterol reductase
UniProt Protein Name
7-dehydrocholesterol reductase
UniProt Synonym Protein Names
Putative sterol reductase SR-2; Sterol Delta(7)-reductase
UniProt Synonym Gene Names
UniProt Entry Name
DHCR7_HUMAN
NCBI Summary for DHCR7
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
UniProt Comments for DHCR7
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.
Protein type: Membrane protein, multi-pass; Lipid Metabolism - steroid biosynthesis; Membrane protein, integral; EC 1.3.1.21; Oxidoreductase
Chromosomal Location of Human Ortholog: 11q13.4
Cellular Component: nuclear outer membrane; endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to membrane
Molecular Function: 7-dehydrocholesterol reductase activity
Biological Process: blood vessel development; multicellular organism growth; regulation of cholesterol biosynthetic process; cell differentiation; cholesterol biosynthetic process; regulation of cell proliferation; post-embryonic development; lung development
Disease: Smith-lemli-opitz Syndrome
Research Articles on DHCR7
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Pathways associated with DHCR7 elisa kit
Diseases associated with DHCR7 elisa kit
Organs/Tissues associated with DHCR7 elisa kit
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