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DHCR7 Antibody

CAT: 0223-55-855Size: 400 µLDry Ice: NoHazardous: No
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CAT#:0223-55-855Size:400 µL
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24/48H Stock Items & 2 to 6 Weeks non Stock Items.
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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.
NCBI Gene ID
1717
Swiss Prot
Q9UBM7
Accession Number
Q9UBM7
Host
Rabbit
Reactivity
Human, Mouse
Immunogen
This DHCR7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 437-463 amino acids from the C-terminal region of human DHCR7.
Clonality
Polyclonal
Conjugation
Unconjugated
Type
Primary Antibodies
Field of Research
Cancer, Obesity, Signal Transduction
Purification
This antibody is purified through a protein A column, followed by peptide affinity purification.
Concentration
Batch dependent
Buffer
Supplied in PBS with 0.09% (W/V) sodium azide.
Modification
None
Shipping Conditions
Blue Ice
Storage Conditions
Store at 4˚ C for three months and -20˚ C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.
Calculated Molecular Weight
54 kDa
Fragment
Rabbit Ig
Symbol
DHCR7
NCBI Official Name
7-dehydrocholesterol reductase
NCBI Organism
Homo sapiens
Background Reference 01
Bailey, S.D., et al. Diabetes Care 33 (10) :2250-2253 (2010)
Background Reference 02
Koo, G., et al. Am. J. Med. Genet.152A (8), 2094-2098 (2010) :
Background Reference 03
Wang, T.J., et al. Lancet 376 (9736) :180-188 (2010)
Background Reference 04
Ahn, J., et al. Hum. Mol. Genet. 19 (13) :2739-2745 (2010)
Other Product Names
7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta (7) -reductase, DHCR7, D7SR
Tested Applications
WB, IHC-P, IF
Protein ID
20138066
Physical Properties
Liquid

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