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Rabbit Anti-DHCR7 antibody
Purified Rabbit Polyclonal Antibody (Pab)
- 产品详情
- 实验流程
- 背景知识
Application 
| WB, E |
|---|---|
| Primary Accession | Q9UBM7 |
| Reactivity | Human, Mouse, Rat, Chicken, Dog, Horse, Bovine |
| Host | Rabbit |
| Clonality | polyclonal |
| Calculated MW | 54489 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human DHCR7 |
| Epitope Specificity | 351-450/475 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBCELLULAR LOCATION | Endoplasmic reticulum membrane; Multi-pass membrane protein. |
| SIMILARITY | Belongs to the ERG4/ERG24 family. |
| DISEASE | Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]; 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. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. |
| Gene ID | 1717 |
|---|---|
| Other Names | 7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR |
| Target/Specificity | Most abundant in adrenal gland, liver, testis, and brain. |
| Dilution | WB=1:500-2000,ELISA=1:5000-10000 |
| Format | 0.01M TBS(pH7.4) with 1% BSA, 0.09% (W/V) sodium azide and 50% Glyce |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| Name | DHCR7 (HGNC:2860) |
|---|---|
| Synonyms | D7SR |
| Function | Oxidoreductase that 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. |
Research Areas
For Research Use Only. Not For Use In Diagnostic Procedures.
Application Protocols
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
REFERENCES
Waterham H.R.,et al.Am. J. Hum. Genet. 63:329-338(1998).
Moebius F.F.,et al.Proc. Natl. Acad. Sci. U.S.A. 95:1899-1902(1998).
Holmer L.,et al.Genomics 54:469-476(1998).
Ota T.,et al.Nat. Genet. 36:40-45(2004).
Wassif C.A.,et al.Am. J. Hum. Genet. 63:55-62(1998).
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Cat# AP50932
