Rabbit anti-Human, Mouse DHCR7 Polyclonal Antibody | anti-DHCR7 antibody

DHCR7 Antibody

Cat. Num. AAA9414473

• Gene Names: DHCR7; SLOS
• Reactivity: Human, Mouse
• Applications: Immunohistochemistry
• Purity: Antigen affinity purification.
• Synonyms: DHCR7; Polyclonal Antibody; DHCR7 Antibody; SLOS; anti-DHCR7 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Specificity: The antibody detects endogenous levels of total DHCR7 protein.
• Purity/Purification: Antigen affinity purification.
• Form/Format: Rabbit IgG in pH7.3 PBS, 0.05% NaN3, 50% Glycerol.
• Concentration: 0.8 mg/ml (varies by lot)
• Sequence Length: 475

• Applicable Applications for anti-DHCR7 antibody: Immunohistochemistry (IHC)
• Application Notes: Immunohistochemistry: 1:25-1:100
• Immunogen Type: Recombinant Protein
• Immunogen Description: Fusion protein corresponding to a region derived from internal residues of human 7-dehydrocholesterol reductase
• Target Name: DHCR7
• Preparation and Storage: Store at -20 degree C

Immunohistochemistry (IHC)

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

Immunohistochemistry (IHC)

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

Related Product Information for anti-DHCR7 antibody

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.

Product Categories/Family for anti-DHCR7 antibody

Total protein Ab

NCBI and Uniprot Product Information

• NCBI GI #: 255308875
• NCBI GeneID: 1717
• NCBI Accession #: NP_001157289.1
• NCBI GenBank Nucleotide #: NM_001163817.1
• UniProt Accession #: Q9UBM7; O60492; O60717; B2R6Z2
• 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
• 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: 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