DNAH1 Antibody, FITC conjugated
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中文名稱：DNAH1兔多克隆抗體, FITC偶聯
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貨號：CSB-PA878961LC01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) DNAH1 Polyclonal antibody
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Uniprot No.：
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基因名：
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別名：DNAH1 antibody; DHC7 antibody; DNAHC1 antibody; KIAA1410 antibody; Dynein heavy chain 1 antibody; axonemal antibody; Axonemal beta dynein heavy chain 1 antibody; Ciliary dynein heavy chain 1 antibody; Heat shock regulated protein 1 antibody; HSRF-1 antibody; hDHC7 antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Dynein heavy chain 1, axonemal protein (2225-2407AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：FITC
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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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
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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靶點詳情
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功能：Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme.
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基因功能參考文獻：
- DNAH1 variations were identified in 6 of 287 patients, including 8 heterozygous variations in exons and a splicing site. 4 variations (g.52400764G>C, g.52409336C>T, g.52430999_52431000del, g.52412624C>A) had already been registered in the 1000 Genomes and Exome Aggregation Consortium databases. The other novel variations (g.52418050del, g.52404762T>G, g.52430536del, g.52412620del) were all predicted to be pathogenic. PMID: 30544445
- Pedigree analysis supported the notion that the combination of DNAH1 gene mutations 52430998CCT>C and 52409336C>T and 52428484G>T alone were associated with MMAF. CONCLUSION(S): These DNAH1 gene mutations may be associated with DFS and infertility in the Han population. PMID: 28577616
- This mutation was distinct from previously reported DNAH1 mutations associated with MMAF and only affected the East Asian group. Furthermore, the variant DNAH1 protein could not be detected in spermatozoa by Western blot or immunofluorescence staining although DNAH1 mRNA was expressed in the spermatozoa. PMID: 27573432
- variation in DNAH1 may play a role in primary ciliary dyskinesia PMID: 25927852
- Although DNAH1 is expressed in other ciliated cells, infertility was the only symptom of primary ciliary dyskinesia observed in affected subjects, suggesting that DNAH1 function in cilium is not as critical as in sperm flagellum. PMID: 24360805
- Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. PMID: 18492703
- Dynein motor function is important for regulating Gag and viral RNA egress on endosomal membranes in the cytoplasm to directly impact on viral production. PMID: 19286658
- clathrin serving as a regulator of SNX4-dependent transport; upon clathrin release, dynein may bind SNX4 and mediate retrograde movement PMID: 19529763
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相關疾病：Spermatogenic failure 18 (SPGF18); Ciliary dyskinesia, primary, 37 (CILD37)
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亞細胞定位：Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, flagellum.
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蛋白家族：Dynein heavy chain family
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組織特異性：Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain.
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