DHCR7 Antibody, Biotin conjugated

說明書

中文名稱：

DHCR7兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA006844LD01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) DHCR7 Polyclonal antibody
Uniprot No.：

Q9UBM7
基因名：

DHCR7
別名：

DHCR7; D7SR; 7-dehydrocholesterol reductase; 7-DHC reductase; Delta7-sterol reductase; Sterol Delta(7-reductase; Sterol reductase SR-2
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human 7-dehydrocholesterol reductase protein (63-147AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA
Protocols：

ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
1. aim of this study was to determine the association between single nucleotide polymorphisms (SNPs) of PNPLA3 (rs738409), COX-2 (rs689465) and DHCR7 (rs12785878) and advanced liver fibrosis in Thai patients PMID: 30139224
2. pathogenic mutations in DHCR7 protein are located either within the transmembrane region or are near the ligand-binding site, and are highly conserved among species. PMID: 29300326
3. The DHCR7 polymorphism may be a pre-treatment predictive marker for response to PEG-IFN-based therapy in chronic HCV genotype 1 infection. PMID: 28415985
4. phosphorylation modulates DHCR7 activity in cells, and contributes to the overall synthesis of cholesterol, and probably vitamin D PMID: 27520299
5. Allelic variations in CYP2R1 and GC affect vitamin D levels, but variant alleles on VDR and DHCR7 were not correlated with vitamin D deficiency. PMID: 26038244
6. Review: DHCR7 activity should be considered during drug development and prenatal toxicity assessment. PMID: 27401223
7. In this study, we demonstrate that the prevalent c.964-1G>C Dhcr7 mutation perturbs SMO cilia localization and SHH pathway activation as a consequence of reduced cholesterol biosynthesis PMID: 26685159
8. these findings highlight DHCR7 as an important regulatory switch between cholesterol and vitamin D synthesis. PMID: 26887953
9. The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians. PMID: 26383826
10. 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. PMID: 25040602
11. Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations PMID: 26149120
12. physical and functional interaction between DHCR24 and DHCR7 PMID: 25637936
13. 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 and DHCR7) PMID: 24974252
14. 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. PMID: 24663808
15. NADSYN1/DHCR7 locus (rs12785878 and rs1790349) polymorphisms have an effect on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence PMID: 24642724
16. This study provides evidence that the DHCR7 gene is involved in the susceptibility to ocular Behcet disease. PMID: 24184224
17. Data indicate that SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with rheumatoid arthritis (RA). PMID: 23636220
18. Data indicate that the same nucleotide polymorphisms (SNPs) genotypes of CYP2R1, GC and DHCR7 that are associated with reduced 25(OH)D3 serum levels were found to be associated with hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC). PMID: 23734184
19. In patients with genotype 1 chronic hepatitis C, GG homozygosis for DHCR7 gene and lower 25-hydroxyvitamin D levels are independently associated with the severity of liver fibrosis. PMID: 23730842
20. Studies suggest DHCR7 mutation for the diagnosis of Smith-Lemli-Opitz Syndrome. PMID: 23321614
21. Genetic variation in DHCR7 associated with lower serum 25(OH)D has a decreased risk of aggressive prostate cancer. PMID: 23377224
22. The p.Thr93Met is the most frequent mutation in Turkish SLOS patients showing that there might be a founder in East Mediterranean regions PMID: 22211794
23. Our study is the first to confirm the association of variants in DHCR7 and CYP2R1 with 25(OH)-vitamin D levels in patients with chronic liver diseases. Results also showed an association between DHCR7 and liver stiffness. PMID: 22576297
24. we found that the two variant genotypes of DHCR7/NADSYN1 (rs3829251, rs12785878) were both associated with serum 25-hydroxyvitamin D levels. PMID: 22801813
25. Two previously reported N287K (861 C>A) and R352Q (1055 G>A) and a novel R352L (1055 G>T) mutations were identified in the DHCR7 gene in these patients. PMID: 21696385
26. ANKRD55 and DHCR7 are novel multiple sclerosis risk loci. PMID: 22130326
27. several SNPs related to calcium metabolism are associated with height, in particular rs3829251 at the DHCR7/NADSYN1 gene. PMID: 22390397
28. This study demonistrated that the accumulation of an immediate cholesterol precursor, 7-DHC and its oxysterol metabolite, 3beta,5alpha-dihydroxycholest-7-en-6-one (DHCEO)in DHCR7 knockout mice. PMID: 22182693
29. GC and NADSYN1/DHCR7 loci individually and collectively contribute to variation in plasma vitamin D levels in Chinese Hans. PMID: 21972121
30. Study confirms that variation in DHCR7 is associated with predisposition to autoimmune disease type 1 diabetes. PMID: 21441443
31. Mutations of the 7-dehydrocholesterol reductase gene is associated with Smith-Lemli-Opitz syndrome. PMID: 20635399
32. LBR mutant variants and sterol reductases can severely interfere with the regular organization of the nuclear envelope and the endoplasmic reticulum. PMID: 19940018
33. The p.G366V is a novel mutation of the DHCR7 gene with guanine by thymine nucleotide exchange resulting in glycin by valin amino acid exchange in the dehydrocholesterol reductase enzyme. PMID: 19365639
34. This protein catalyses the last step of endogenous cholesterol synthesis. SLOS is caused by a biochemical enzymatic defect. PMID: 11767235
35. identified a new mutation in DHCR7 PMID: 11857552
36. Mutation analysis demonstrated a novel mutation in the DHCR7 gene, present in homozygous form in the two affected individuals available for testing, and heterozygous in the parents. PMID: 12116246
37. SLOS is a recessive gene disorder. A fetus was found to have renal agenesis. PMID: 12833423
38. Our identification of a single haplotype associated with the T93M mutation in patients whose ancestors originate in the region of the Mediterranean Sea basin suggests a founder effect. PMID: 14981719
39. DHCR7 mutations have a role in the Smith-Lemli-Opitz syndrome PMID: 15776424
40. identification of nine novel missense mutations of the DHCR7 gene PMID: 15954111
41. Mutational analysis of the DHCR7 gene led to the identification of seven distinct mutations, three of which are new (F174S, H301R, and Q98X) for Smith-Lemli-Opitz syndrome. PMID: 15979035
42. In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations. PMID: 16497572
43. DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of Smith-Lemli-Opitz syndrome. PMID: 17441222
44. DHCR7 gene mutations is associated with Smith-Lemli-Opitz syndrome. PMID: 17595012
45. it appears that a combination of founder effects, recurrent mutations, and drift have shaped the present frequency distribution of DHCR7 mutations in Europe PMID: 17965227
46. The study identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. PMID: 18006960
47. DHCR7 mutation is associated with Smith-Lemli-Opitz syndrome PMID: 18249054
48. study determined the mutational spectrum of DHCR7 gene in 17 Slovak Smith-Lemli-Opitz syndrome patients; 6 different mutations were identified: nonsense mutation W151X and missense mutations V326L, L109P, G410S, R352Q, Y432C PMID: 19390132
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相關疾病：

Smith-Lemli-Opitz syndrome (SLOS)
亞細胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein.
蛋白家族：

ERG4/ERG24 family
組織特異性：

Widely expressed. Most abundant in adrenal gland, liver, testis, and brain.
數據庫鏈接：

HGNC: 2860

OMIM: 270400

KEGG: hsa:1717

STRING: 9606.ENSP00000347717

UniGene: Hs.503134

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