Western blot analysis of extracts of various cell lines, using DHCR7 antibody (A8049) at 1:1000 dilution.|Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (AS014) at 1:10000 dilution.|Lysates/proteins: 25ug per lane.|Blocking buffer: 3% nonfat dry milk in TBST.|Detection: ECL Basic Kit (RM00020).|Exposure time: 90s.
DHCR7 Rabbit pAb
Catalog No:AB-A8049
Manufacturer:ABclonal
Synonyms:DHCR7;SLOS
Applications:WB
Reactivity:Human
Host:Rabbit
Conjugate:No
€65,00 – €370,00
Product Name: | DHCR7 Rabbit pAb |
Category: | Polyclonal Antibodies |
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. |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 346-475 of human DHCR7 (NP_001351.2). |
Gene ID: | 1717 |
Swiss prot: | Q9UBM7 |
Molecular weight: | 54kDa |
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