DHCR7, Polyclonal Antibody

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

Polyclonal

IgG

Rabbit

Affinity Purification

Store at -20 degree C. Avoid freeze / thaw cycles.
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Small volumes of anti-DHCR7 antibody 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.

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.

Western Blot (WB), Immunohistochemistry (IHC)

WB 1:500 - 1:2000
IHC 1:50 - 1:200

Western blot analysis of extracts of various cell lines, using DHCR7 antibody at 1:1000 dilution.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.
Detection: ECL Basic Kit.
Exposure time: 90s.

54kDa

7-dehydrocholesterol reductase

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: EC 1.3.1.21; Membrane protein, integral; Oxidoreductase; 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; multicellular organism growth; regulation of cholesterol biosynthetic process; cell differentiation; cholesterol biosynthetic process; lung development; regulation of cell proliferation; post-embryonic development

Disease: Smith-lemli-opitz Syndrome

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