ARP1717-01 [Polyclonal Antibody]
DHCR7 Rabbit Polyclonal Antibody
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Species:   Rabbit
Applications:   WB IHC
Immunogen Range:   Recombinant protein of human DHCR7
Clonality:   Polyclonal Antibody
Isotype:   IgG
GENE ID:   1717
Swiss Prot:   Q9UBM7
Synonyms:   SLOS
Purification:   Affinity purification
Storage:   Store at -20°C (regular) or -80°C (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
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
Caculated MW:   54 kDa
Observed MW:   Refer to Figures
Applications:   WB 1:500-1:2000
IHC 1:50-1:200
Reacitivity:   Human
For research use only. Not intended for diagnostic or therapeutic use!
Additional information