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  4. Recombinant Human 7-dehydrocholesterol reductase (DHCR7)

Recombinant Human 7-dehydrocholesterol reductase (DHCR7)

  • 货号：
    CSB-CF006844HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    DHCR7
  • Uniprot No.：
  • 别名：
    DHCR7; D7SR; 7-dehydrocholesterol reductase; 7-DHC reductase; Delta7-sterol reductase; Sterol Delta(7-reductase; Sterol reductase SR-2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-475
  • 氨基酸序列
    MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Smith-Lemli-Opitz syndrome (SLOS)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    ERG4/ERG24 family
  • 组织特异性：
    Widely expressed. Most abundant in adrenal gland, liver, testis, and brain.
  • 数据库链接：

    HGNC: 2860

    OMIM: 270400

    KEGG: hsa:1717

    STRING: 9606.ENSP00000347717

    UniGene: Hs.503134