7-dehydrocholesterol reductase (DHCR7), ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C.

We suggest pre-experimenting with neat (undiluted) samples, 1:2 or 1:4 dilutions. Please avoid diluting your samples more than 1:10 as it would exceed the dilution limit set for this kit. If the expected concentration of the target is beyond the detection range of the kit, please contact our technical support team

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.

Small volumes of DHCR7 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS7219664 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the 7-dehydrocholesterol reductase (DHCR7) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing DHCR7. The ELISA analytical biochemical technique of the MBS7219664 kit is based on DHCR7 antibody-DHCR7 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect DHCR7 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, DHCR7. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

54,489 Da

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

D7SR; 7-DHC reductase  [Similar Products]

DHCR7_HUMAN

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: Oxidoreductase; Membrane protein, integral; Membrane protein, multi-pass; EC 1.3.1.21; 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; post-embryonic development; lung development; regulation of cell proliferation

Disease: Smith-lemli-opitz Syndrome

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