DHCR7 cdna clone
DHCR7 cDNA Clone
NCBI and Uniprot Product Information
NCBI 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.[provided by RefSeq, Aug 2009]
Uniprot Description
DHCR7: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS); 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. Belongs to the ERG4/ERG24 family.
Protein type: Membrane protein, multi-pass; EC 1.3.1.21; Lipid Metabolism - steroid biosynthesis; Membrane protein, integral; Oxidoreductase
Chromosomal Location of Human Ortholog: 11q13.4
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to endoplasmic reticulum membrane; membrane; nuclear outer membrane
Molecular Function: 7-dehydrocholesterol reductase activity; NADP binding
Biological Process: cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol
Disease: Smith-lemli-opitz Syndrome
Research Articles on DHCR7
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Product Notes
The DHCR7 dhcr7 (Catalog #AAA1271532) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggctgcaa aatcgcaacc caacattccc aaagccaaga gtctagatgg cgtcaccaat gacagaaccg catctcaagg gcagtggggc cgtgcctggg aggtggactg gttttcactg gcgagcgtca tcttcctact gctgttcgcc cccttcatcg tctactactt catcatggct tgtgaccagt acagctgcgc cctgaccggc cctgtggtgg acatcgtcac tggacatgct cggctctcgg acatctgggc caagactcca cctataacga ggaaagccgc ccagctctat accttgtggg tcaccttcca ggtgcttctg tacacgtctc tccctgactt ctgccataag tttctacccg gctacgtagg aggcatccag gagggggccg tgactcctgc aggggttgtg aacaagtatc agatcaacgg cctgcaagcc tggctcctca cgcacctgct ctggtttgca aacgctcatc tcctgtcctg gttctcgccc accatcatct tcgacaactg gatcccactg ctgtggtgcg ccaacatcct tggctatgcc gtctccacct tcgccatggt caagggctac ttcttcccca ccagcgccag agactgcaaa ttcacaggca atttctttta caactacatg atgggcatcg agtttaaccc tcggatcggg aagtggtttg acttcaagct gttcttcaat gggcgccccg ggatcgtcgc ctggaccctc atcaacctgt ccttcgcagc gaagcagcgg gagctccaca gccatgtgac caatgccatg gtcctggtca acgtcctgca ggccatctac gtgattgact tcttctggaa cgaaacctgg tacctgaaga ccattgacat ctgccatgac cacttcgggt ggtacctggg ctggggcgac tgtgtctggc tgccttatct ttacacgctg cagggtctgt acttggtgta ccaccccgtg cagctgtcca ccccgcacgc cgtgggcgtc ctgctgctgg gcctggtggg ctactacatc ttccgggtgg ccaaccacca gaaggacctg ttccgccgca cggatgggcg ctgcctcatc tggggcagga agcccaaggt catcgagtgc tcctacacat ccgccgacgg gcagaggcac cacagcaagc tgctggtgtc gggcttctgg ggcgtggccc gccacttcaa ctacgtcggc gacctgatgg gcagcctggc ctactgcctg gcctgtggcg gcggccacct gctgccctac ttctacatca tctacatggc catcctgctg acccaccgct gcctccggga cgagcaccgc tgcgccagca agtacggccg ggactgggag cgctacaccg ccgcagtgcc ttaccgcctg ctgcctggaa tcttctaa. It is sometimes possible for the material contained within the vial of "DHCR7, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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