DHCR7 Antibody (C-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| WB, IF |
---|---|
Primary Accession | Q9UBM7 |
Reactivity | Human, Mouse |
Host | Rabbit |
Clonality | Polyclonal |
Calculated MW | H=54;M=54 KDa |
Isotype | Rabbit IgG |
Antigen Source | HUMAN |
Gene ID | 1717 |
---|---|
Antigen Region | 437-463 aa |
Other Names | 7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR |
Dilution | IF~~1:25 WB~~1:2000 |
Target/Specificity | 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. |
Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | DHCR7 Antibody (C-term) is for research use only and not for use in diagnostic or therapeutic procedures. |
Name | DHCR7 |
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Synonyms | D7SR |
Function | Catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7- DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core (PubMed:25637936, PubMed:38297129, PubMed:38297130, PubMed:9465114, PubMed:9634533). Can also metabolize cholesta-5,7,24- trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol (By similarity). Modulates ferroptosis (a form of regulated cell death driven by iron-dependent lipid peroxidation) through the metabolic breakdown of the anti-ferroptotic metabolites 7-DHC and 7-DHD which, when accumulated, divert the propagation of peroxyl radical- mediated damage from phospholipid components to its sterol core, protecting plasma and mitochondrial membranes from phospholipid autoxidation (PubMed:38297129, PubMed:38297130). |
Cellular Location | Endoplasmic reticulum membrane; Multi-pass membrane protein |
Tissue Location | Widely expressed. Most abundant in adrenal gland, liver, testis, and brain. |
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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.
References
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)
Koo, G., et al. Am. J. Med. Genet. A 152A (8), 2094-2098 (2010) :
Wang, T.J., et al. Lancet 376(9736):180-188(2010)
Ahn, J., et al. Hum. Mol. Genet. 19(13):2739-2745(2010)
Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :
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