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DHCR7 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. Additionally we are shipping DHCR7 Kits (8) and DHCR7 Proteins (3) and many more products for this protein.
Showing 10 out of 41 products:
Mouse (Murine) Polyclonal DHCR7 Primary Antibody for IF, IHC (p) - ABIN655399
Jugessur, Shi, Gjessing, Lie, Wilcox, Weinberg, Christensen, Boyles, Daack-Hirsch, Nguyen, Christiansen, Lidral, Murray: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. in PLoS ONE 2010
Results suggest that 7-dehydrocholesterol reductase and Sonic Hedgehog (show SHH Antibodies) are co-expressed during midline development in Xenopus embryos.
Data from Xdhcr7 overexpression and knockdown experiments reveals that a tight control of cholesterol synthesis is particularly important for proper development of the central and peripheral nervous system
both Delta(5,7)-sterol-Delta(7)-reductase and Delta(24)-sterol-Delta(24)-reductase are in addition localized to the plasma membrane, whereas Delta(7)-sterol-C(5)-desaturase was clearly detected in lipid particles
Studied the effect of 7-dehydrocholesterol reductase (Dhcr7) and identified signal pathways involved in regulation of embryonic palatogenesis. Expression changes of Dhcr7, Sonic Hedgehog (Shh (show SHH Antibodies)), and bone morphogenetic protein-2 (Bmp2 (show BMP2 Antibodies)) were measured by RT-PCR and WB after Dhcr7 gene silencing and the addition of exogenous cholesterol.
significant increases in Col1a1 (show COL1A1 Antibodies), serine/threonine-protein kinase 1, Ctnnb1 (show CTNNB1 Antibodies), CSRNP1 (show CSRNP1 Antibodies), Ddit4 (show DDIT4 Antibodies), Cyp2e1 (show CYP2E1 Antibodies), and Krit1 (show KRIT1 Antibodies) expressions and great decreases inreceptor D2, Neu1 (show NEURL Antibodies), and Dhcr7 expressions following long-term exposure to TiO2 NPs (show NPS Antibodies)
data indicate an underlying dysfunction of the 5-HT2A (show HTR2A Antibodies) receptors in Dhcr7-HET mice that warrants further investigation to establish how this may relate to behavioral disturbances in human patients carrying Dhcr7 mutations
conclude that cytochrome P450 reductase (show POR Antibodies) is not involved in 7-dehydrocholesterol reductase activity
Data suggest that although cholesterol synthesis is impaired in both Dhcr7 mutant and Sc5d (show SC5DL Antibodies)(-/-) embryonic brain, synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology.
Immunohistochemical analyses have revealed a 306% increase in the area of 5-HT (show DDC Antibodies) immunoreactivity (5-HT (show DDC Antibodies) IR) in the hindbrains of mutant (Dhcr7-/-) mice as compared to age-matched wild type animals.
Of the 12,000 genes analyzed, 91 were upregulated and 98 were downregulated in the Dhcr7-/- hindbrains when compared to wild-type animals.
CNS defects caused by Dhcr7 null likely play a major role in the lethal pathogenesis of Dhcr7-/- mice, with the peripheral organs contributing the morbidity
Data show that in vitro down regulation of NRIF (show ZFP110 Antibodies) expression decreased the mRNA for two main cholesterogenic enzymes, 3-hydroxy-3-methylglutaryl-coenzyme A reductase (show HMGCR Antibodies) and 7-dehydrocholesterol reductase.
down-regulation of Dhcr7 altered expression of multiple molecules that play critical roles in intracellular signaling or vesicular transport or are inserted into membrane rafts, and down-regulated several critical genes involved in lipid biosynthesis
In this study, we demonstrate that the prevalent c.964-1G>C Dhcr7 mutation perturbs SMO cilia localization and SHH (show SHH Antibodies) pathway activation as a consequence of reduced cholesterol biosynthesis
these findings highlight DHCR7 as an important regulatory switch between cholesterol and vitamin D synthesis.
The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 (show CYP2R1 Antibodies) gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians.
This study shows that Smith-Lemli-Opitz Syndrome patients who are heterozygous/homozygous for one pathogenic mutation and only one parent carrying that mutation are candidates for DHCR7 gene (partial) deletions.
Polymorphisms in CYP2R1 (show CYP2R1 Antibodies)-rs10766197 and DHCR7/NADSYN1 (show NADSYN1 Antibodies)-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
physical and functional interaction between DHCR24 (show DHCR24 Antibodies) and DHCR7
In this mendelian randomisation study, we generated an allele score (25[OH]D synthesis score) based on variants of genes that affect 25(OH)D synthesis or substrate availability (CYP2R1 (show CYP2R1 Antibodies) and DHCR7)
rs3829251 (DHCR7) influenced progression of subclinical atherosclerosis in a manner dependent on type 2 diabetes status but independent of 25(OH)D levels. The SNP modulates DHCR7 mRNA levels in aortic adventitia.
NADSYN1 (show NADSYN1 Antibodies)/DHCR7 locus (rs12785878 and rs1790349) polymorphisms have an effect on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence
This study provides evidence that the DHCR7 gene is involved in the susceptibility to ocular Behcet disease.
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.
, sterol Delta(7)-reductase
, 7-dehydrocholesterol reductase
, delta-7-dehydrocholesterol reductase
, putative sterol reductase SR-2
, sterol delta-7-reductase