Metabolism Antibodies 3

Anti-DHCR7 Antibody (CAB8049)

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SKU:
CAB8049
Product Type:
Antibody
Applications:
WB
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Metabolism

Description

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Antibody Name:DHCR7 Rabbit Polyclonal Antibody
Antibody SKU:CAB8049
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 346-475 of human DHCR7 (NP_001351.2).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:MCF7, HepG2, HeLa
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 346-475 of human DHCR7 (NP_001351.2).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:VGYY IFRV ANHQ KDLF RRTD GRCL IWGR KPKV IECS YTSA DGQR HHSK LLVS GFWG VARH FNYV GDLM GSLA YCLA CGGG HLLP YFYI IYMA ILLT HRCL RDEH RCAS KYGR DWER YTAA VPYR LLPG IF
Gene ID:1717
Uniprot:Q9UBM7
Cellular Location:Endoplasmic reticulum membrane, Multi-pass membrane protein
Calculated MW:54kDa
Observed MW:70kDa
Synonyms:DHCR7, SLOS
Background: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.
UniProt Protein Function: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.
UniProt Protein Details:

Protein type:EC 1.3.1.21; Membrane protein, multi-pass; Membrane protein, integral; Oxidoreductase; Lipid Metabolism - steroid biosynthesis

Chromosomal Location of Human Ortholog: 11q13.4

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to endoplasmic reticulum membrane; membrane; nuclear outer membrane

Molecular Function:7-dehydrocholesterol reductase activity

Biological Process: cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol

Disease: Smith-lemli-opitz Syndrome

NCBI Summary: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 Code:Q9UBM7
NCBI GenInfo Identifier:20138066
NCBI Gene ID:1717
NCBI Accession:Q9UBM7.1
UniProt Secondary Accession:Q9UBM7,O60492, O60717, B2R6Z2,
UniProt Related Accession:Q9UBM7
Molecular Weight:54,489 Da
NCBI Full Name:7-dehydrocholesterol reductase
NCBI 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
UniProt Synonym Protein Names:Putative sterol reductase SR-2; Sterol Delta(7)-reductase
Protein Family:Probable 7-dehydrocholesterol reductase
UniProt Gene Name:DHCR7  
UniProt Entry Name:DHCR7_HUMAN
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