ELISA/assay

Human 7-dehydrocholesterol reductase, DHCR7 ELISA Kit

MBS945050

48-Strip-Wells

510 USD

ELISA Kit

Human 7-dehydrocholesterol reductase, DHCR7 ELISA Kit

7-dehydrocholesterol reductase

Human 7-dehydrocholesterol reductase (DHCR7) ELISA kit; SLOS; delta-7-dehydrocholesterol reductase; sterol delta-7-reductase; 7-dehydrocholesterol reductase

7-dehydrocholesterol reductase; 7-dehydrocholesterol reductase; 7-dehydrocholesterol reductase; 7-DHC reductase; sterol delta-7-reductase; putative sterol reductase SR-2; delta-7-dehydrocholesterol reductase; 7-dehydrocholesterol reductase; Putative sterol reductase SR-2; Sterol Delta(7)-reductase

DHCR7

DHCR7; DHCR7; SLOS; D7SR; 7-DHC reductase

DHCR7_HUMAN

Human

475

This assay has high sensitivity and excellent specificity for detection of human DHCR7. No significant cross-reactivity or interference between human DHCR7 and analogues was observed.

Unopened test kits should be stored at 2 to 8 degree C upon receipt. Please refer to pdf manual for further storage instructions.

Samples: Serum, plasma, tissue homogenates. Assay Type: Sandwich. Detection Range: 31.25 pg/ml -2000 pg/ml. Sensitivity: The minimum detectable dose of human DHCR7 is typically less than 7.8 pg/ml. The sensitivity of this assay, or Lower Limit of Detection (LLD) was defined as the lowest protein concentration that could be differentiated from zero. It was determined the mean O.D value of 20 replicates of the zero standard added by their three standard deviations.

Intra-assay Precision: Intra-assay Precision (Precision within an assay): CV%<8%. Three samples of known concentration were tested twenty times on one plate to assess. Inter-assay Precision: Inter-assay Precision (Precision between assays): CV%<10%. Three samples of known concentration were tested in twenty assays to assess.

Principle of the assay: This assay employs the quantitative sandwich enzyme immunoassay technique. Antibody specific for DHCR7 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any DHCR7 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for DHCR7 is added to the wells. After washing, avidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of DHCR7 bound in the initial step. The color development is stopped and the intensity of the color is measured.

255308875

NP_001157289.1

NM_001163817.1

Q9UBM7

54,489 Da

Cholesterol Biosynthesis Pathway (198809); Cholesterol Biosynthesis Pathway (106142); Cholesterol Biosynthesis, Squalene 2,3-epoxide = Cholesterol Pathway (413390); Cholesterol Biosynthesis, Squalene 2,3-epoxide = Cholesterol Pathway (468282); Metabolism Pathway (477135); Metabolism Of Lipids And Lipoproteins Pathway (160976); Steroid Biosynthesis Pathway (82937); Steroid Biosynthesis Pathway (298); Cholesterol Biosynthesis I Pathway (142267); Cholesterol Biosynthesis I Pathway (138627)

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]

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

48-Strip-Wells

510 USD

96-Strip-Wells

725

5x96-Strip-Wells

2565

10x96-Strip-Wells

4800