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DHCR7 Antibody (C-term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q9UBM7 |
|---|---|
| Clone Names | 81006085 |
| Gene ID | 1717 |
|---|---|
| Other Names | 7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | DHCR7 |
|---|---|
| Synonyms | D7SR |
| Function | 7-dehydrocholesterol reductase of the cholesterol biosynthetic pathway reducing the C7-C8 double bond of cholesta-5,7- dien-3beta-ol (7-dehydrocholesterol/7-DHC) and cholesta-5,7,24-trien- 3beta-ol, two intermediates in that pathway. |
| 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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Provided below are standard protocols that you may find useful for product applications.
Background
This gene encodes an enzyme that removes the C(7-8) doublebond in the B ring of sterols and catalyzes the conversion of7-dehydrocholesterol to cholesterol. This gene is ubiquitouslyexpressed and its transmembrane protein localizes to theendoplasmic reticulum membrane and nuclear outer membrane.Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); asyndrome that is metabolically characterized by reduced serumcholesterol levels and elevated serum 7-dehydrocholesterol levelsand phenotypically characterized by mental retardation, facialdysmorphism, syndactyly of second and third toes, andholoprosencephaly in severe cases to minimal physical abnormalitiesand near-normal intelligence in mild cases. Alternative splicingresults in multiple transcript variants that encode the sameprotein.
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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