DHDDS Antibody
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货号:CSB-PA006845ESR2HU
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规格:¥440
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促销:
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图片:
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其他:
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) DHDDS Polyclonal antibody
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Uniprot No.:Q86SQ9
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基因名:DHDDS
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别名:DHDDS antibody; HDSDehydrodolichyl diphosphate synthase complex subunit DHDDS antibody; EC 2.5.1.87 antibody; Cis-isoprenyltransferase antibody; CIT antibody; Cis-IPTase antibody; Cis-prenyltransferase subunit hCIT antibody; Epididymis tissue protein Li 189m antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Recombinant Human Dehydrodolichyl diphosphate synthase complex subunit DHDDS protein (1-333AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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克隆类型:Polyclonal
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抗体亚型:IgG
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纯化方式:Antigen Affinity Purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
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产品提供形式:Liquid
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应用范围:ELISA, IHC
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推荐稀释比:
Application Recommended Dilution IHC 1:20-1:200 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期: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.
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靶点详情
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功能:With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length. Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol.
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基因功能参考文献:
- Study describe a patient presenting with severe multisystem disease associated with DHDDS deficiency. As retinitis pigmentosa is the only clinical sign in previously reported cases, this report broadens the spectrum of phenotypes associated with this condition. PMID: 27343064
- findings show that eukaryotic cis-PT is composed of the NgBR and hCIT subunits. The strong conservation of the RXG motif among NgBR orthologs indicates that this subunit is critical for the synthesis of polyprenol diphosphates and cellular function. PMID: 28842490
- We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry PMID: 25255364
- A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis pigmentosa (RP) in a family of Ashkenazi Jewish origin. PMID: 24664694
- A missense mutation in DHDDS is associated with autosomal-recessive retinitis pigmentosa. PMID: 21295282
- A variant in DHDDS is associated with retinitis pigmentosa. PMID: 21295283
- identification and amino acid sequence expressed in yeast PMID: 12591616
- identification and characterization; overexpression of CIT in CHO cells results in a modest increase in cis-isoprenyltransferase activity associated with microsomal fractions PMID: 14652022
- molecular cloning; results suggest a regulatory relationship between CPT activity and dolichol biosynthesis, and may implicate CPT in the levels of dolichol-oligosaccharide intermediate biosynthesis PMID: 15850770
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相关疾病:Retinitis pigmentosa 59 (RP59)
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亚细胞定位:Endoplasmic reticulum membrane; Peripheral membrane protein. Note=colocalizes with calnexin.
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蛋白家族:UPP synthase family
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组织特异性:Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus.
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数据库链接:
HGNC: 20603
OMIM: 608172
KEGG: hsa:79947
STRING: 9606.ENSP00000353104
UniGene: Hs.369385
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