DDHD2 Antibody
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货号:CSB-PA006586LA01HU
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规格:¥3900
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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) DDHD2 Polyclonal antibody
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Uniprot No.:O94830
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基因名:DDHD2
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别名:DDHD domain containing protein 2 antibody; DDHD domain-containing protein 2 antibody; Ddhd2 antibody; DDHD2_HUMAN antibody; KIAA0725 antibody; mKIAA0725 antibody; Phospholipase DDHD2 antibody; SAM antibody; SAM; WWE and DDHD domain containing protein 1 antibody; SAMWD1 antibody; WWE and DDHD domain-containing protein 1 antibody
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宿主:Rabbit
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反应种属:Human, Rat
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免疫原:Recombinant Human Phospholipase DDHD2 protein (361-650AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
本页面中的产品,DDHD2 Antibody (CSB-PA006586LA01HU),的标记方式是Non-conjugated。对于DDHD2 Antibody,我们还提供其他标记。见下表:
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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 purification
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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:Preservative: 0.02% sodium azide
Constituents: PBS containing 50% glycerol -
产品提供形式:Liquid
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应用范围:ELISA, WB, IHC, IF
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推荐稀释比:
Application Recommended Dilution WB 1:1000-1:5000 IHC 1:50-1:500 IF 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.
相关产品
靶点详情
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功能:Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane.
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基因功能参考文献:
- A set of HSP-related mutations in DDHD2 disrupt triglyceride hydrolase activity in vitro and impair the capacity of DDHD2 to protect cells from lipid droplet accumulation after exposure to free fatty acid.Genetic inactivation of DDHD2 from HSP-associated mutations perturbs lipid homeostasis and the formation and content of LDs. DDHD2 plays a role in triglyceride metabolism for normal CNS function. PMID: 29278326
- Truncating mutation has been found in the DDHD2 gene in a large consanguineous family with hereditary spastic paraplegia and intellectual disability. PMID: 26113134
- Our results provide an extensive genome wide set of targets for miR-503, miR-103, and miR-494, and suggest that miR-503 may act as a tumor suppressor in breast cancer by its direct non-canonical targeting of DDHD2. PMID: 25653011
- Three missense mutations including p.Val220Phe of DDHD2 significantly reduced PLA1 activity and indicated that the loss of PLA1 activity significantly contributes to SPG54 pathogenicity. PMID: 25417924
- study reports two Italian brothers with autosomal recessive hereditary spastic paraplegia with thin corpus callosum due to two deleterious compound heterozygous missense mutations that have been identified in the DDHD2 gene by exome sequencing PMID: 24517879
- The DDHD2 gene shows a low mutation frequency in a general population of complicated hereditary spastic paraparesis PMID: 24337409
- Two deleterious mutations in the phospholipase DDHD2 gene in two families with complicated Hereditary spastic paraplegias. PMID: 23486545
- mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease. PMID: 23176823
- KIAAO725p is targeted to specific organelle membranes in a phosphoinositide-dependent manner. PMID: 22922100
- KIAA0725p is localized in the Golgi [KIAA0725p] PMID: 20932832
- Data show that FGFR1 and DDHD2 at 8p12 cooperated functionally with MYC, whereas CCND1 and ZNF703 cooperated with a dominant negative form of TP53. PMID: 19330026
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相关疾病:Spastic paraplegia 54, autosomal recessive (SPG54)
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亚细胞定位:Cytoplasm, cytosol. Endoplasmic reticulum-Golgi intermediate compartment. Golgi apparatus, cis-Golgi network. Note=Cycles between the Golgi apparatus and the cytosol. DDHD2 recruitment to the Golgi/endoplasmic reticulum-Golgi intermediate compartment (ERGIC) is regulated by the levels of phosphoinositides, including PI(4)P.
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蛋白家族:PA-PLA1 family
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组织特异性:Widely expressed (at protein level).
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数据库链接:
HGNC: 29106
OMIM: 615003
KEGG: hsa:23259
STRING: 9606.ENSP00000380352
UniGene: Hs.434966