Mouse 7-dehydrocholesterol reductase (DHCR7) ELISA Kit | DHCR7 elisa kit

Mouse 7-dehydrocholesterol reductase (DHCR7) ELISA Kit

Cat. Num. AAA7235854

• Gene Names: DHCR7; SLOS
• Reactivity: Mouse
• Synonyms: 7-dehydrocholesterol reductase (DHCR7); Mouse 7-dehydrocholesterol reductase (DHCR7) ELISA Kit; DHCR7 elisa kit

• Reactivity: Mouse

• Samples: Serum, plasma, Cell Culture Supernatants, body fluid and tissue homogenate
• Assay Type: Competitive
• Detection Range: 0.5-10ng/mL
• Sensitivity: 0.1ng/mL
• Intended Uses: This DHCR7 ELISA kit is a 1.5 hour solid-phase ELISA designed for the quantitative determination of Mouse DHCR7. This ELISA kit for research use only, not for therapeutic applications!
• Preparation and Storage: Store all reagents at 2-8 degree C.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for DHCR7 elisa kit

Principle of the assay: DHCR7 ELISA kit applies the competitive enzyme immunoassay technique utilizing a monoclonal anti-DHCR7 antibody and an DHCR7-HRP conjugate. The assay sample and buffer are incubated together with DHCR7-HRP conjugate in pre-coated plate for one hour. After the incubation period, the wells are decanted and washed five times. The wells are then incubated with a substrate for HRP enzyme. The product of the enzyme-substrate reaction forms a blue colored complex. Finally, a stop solution is added to stop the reaction, which will then turn the solution yellow. The intensity of color is measured spectrophotometrically at 450nm in a microplate reader. The intensity of the color is inversely proportional to the DHCR7 concentration since DHCR7 from samples and DHCR7-HRP conjugate compete for the anti-DHCR7 antibody binding site. Since the number of sites is limited, as more sites are occupied by DHCR7 from the sample, fewer sites are left to bind DHCR7-HRP conjugate. A standard curve is plotted relating the intensity of the color (O.D.) to the concentration of standards. The DHCR7 concentration in each sample is interpolated from this standard curve.

NCBI and Uniprot Product Information

• NCBI GI #: 255308875
• NCBI GeneID: 1717
• NCBI Accession #: NP_001157289.1
• NCBI GenBank Nucleotide #: NM_001163817.1
• Molecular Weight: 54,489 Da
• NCBI Official Full Name: 7-dehydrocholesterol reductase
• NCBI Official Synonym Full Names: 7-dehydrocholesterol reductase
• NCBI Official Symbol: DHCR7
• NCBI Official Synonym Symbols: SLOS
• 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
• Protein Family: Probable 7-dehydrocholesterol reductase
• UniProt Gene Name: DHCR7
• UniProt Synonym Gene Names: D7SR; 7-DHC reductase
• UniProt Entry Name: DHCR7_HUMAN

NCBI Description

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 Description

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: Oxidoreductase; Membrane protein, integral; EC 1.3.1.21; Membrane protein, multi-pass; Lipid Metabolism - steroid biosynthesis

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; regulation of cholesterol biosynthetic process; multicellular organism growth; cell differentiation; cholesterol biosynthetic process; regulation of cell proliferation; post-embryonic development; lung development

Disease: Smith-lemli-opitz Syndrome