DHCR7, Polyclonal Antibody

SLOS

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

Polyclonal

Rabbit

The antibody detects endogenous levels of total DHCR7 protein.

Antigen affinity purification.

Rabbit IgG in pH7.3 PBS, 0.05% NaN3, 50% Glycerol.

0.8 mg/ml (lot specific)

Store at -20 degree C

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.

Total protein Ab

Immunohistochemistry (IHC)

Immunohistochemistry: 1:25-1:100

Immunohistochemical analysis of paraffin-embedded Human colon cancer tissue using at dilution 1/20.

Immunohistochemical analysis of paraffin-embedded Human thyroid cancer tissue using at dilution 1/20.

54,489 Da

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: Lipid Metabolism - steroid biosynthesis; EC 1.3.1.21; Membrane protein, multi-pass; Membrane protein, integral; 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; regulation of cholesterol biosynthetic process; multicellular organism growth; cell differentiation; cholesterol biosynthetic process; lung development; post-embryonic development; regulation of cell proliferation

Disease: Smith-lemli-opitz Syndrome

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