SLC9A6 Antibody
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中文名稱：SLC9A6兔多克隆抗體
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貨號：CSB-PA206009
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規格：￥2024
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圖片：
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Western blot analysis of extracts from RAW264.7 cells,using SLC9A6 antibody.
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) SLC9A6 Polyclonal antibody
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Uniprot No.：
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基因名：
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宿主：Rabbit
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反應種屬：Human
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免疫原：Synthesized peptide derived from internal of Human SLC9A6.
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免疫原種屬：Homo sapiens (Human)
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克隆類型：Polyclonal
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純化方式：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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濃度：It differs from different batches. Please contact us to confirm it.
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產品提供形式：Liquid
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應用范圍：ELISA,WB
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推薦稀釋比：
Application Recommended Dilution WB 1:500-1:3000 -
Protocols：
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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.
產品評價
相關產品
靶點詳情
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功能：Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.
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基因功能參考文獻：
- membrane trafficking of the ES mutant in SLC9A6was impaired and elicited marked reductions in total dendritic length, area and arborization, and triggered apoptotic cell death PMID: 27590723
- by sequencing panels of genes in patients with no precise clinical diagnosis, NGS can broaden the clinical variability associated with a known gene. We also argue that SLC9A6 gene mutations in females could be responsible for a monogenic cause of mild learning disability/constitutive speech disorders. PMID: 27256868
- We describe a large extended family with three affected males, four carrier females, one presumed carrier female and one obligate carrier female with a c.190G>T, p.E64X mutation known to cause a premature stop codon in SLC9A6 PMID: 27142213
- Epileptic encephalopathy related to mutations in the SLC9A6 genes. PMID: 25818041
- Data show that co-expression with sodium-hydrogen antiporter NHE6 or treatment with the Na(+)/H(+) ionophore monensin shifted amyloid precursor protein (APP) away from the trans-Golgi network into early and recycling endosomes in HEK293 cells. PMID: 25561733
- This study demonistrated that Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. PMID: 25044251
- find interesting gene expression changes in endosomal NHE6 and NHE9 in postmortem autism brains. PMID: 23508127
- Data indicate SLC9A6 mutations and the clinical uniformity of male patients with Christianson syndrome in two familieis. PMID: 22931061
- We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation in SLC9A6 PMID: 22541666
- The involvement of SLC9A6 mutations in 22 males initially suspected to have Angelman syndrome (AS) but found on genetic testing not to have AS (AS-like cohort), and 104 male patients with X-linked mental retardation (XMR) (XMR cohort), was investigated. PMID: 21812100
- These observations suggest that NHE6 regulates clathrin-dependent endocytosis of transferrin via pH regulation. PMID: 21881004
- In mineralizing osteoblasts, slightly basic basal intracellular pH is maintained, and external acid load is dissipated, by high-capacity Na(+) /H(+) exchange via NHE1 and NHE6. PMID: 21413028
- This review defines NHE6-9 as organellar NHEs that are fairly dynamic, implying that they are subjected to intracellular trafficking and thus they continuously shuttle between organelles and the plasma membrane. PMID: 21171650
- NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells PMID: 20130086
- NHE6 with alanine substitutions in the membrane-proximal region exhibited no apparent change in localization. PMID: 20364249
- Analysis identified an in-frame 9 base pair deletion in the solute carrier family 9, isoform A6 (SLC9A6 gene), which encodes sodium/hydrogen exchanger-6 localized to endosomal vesicles. PMID: 20395263
- results suggest that NHE6 is an endosomal Na(+)/H(+) exchanger that may regulate intravesicular pH and volume and contribute to lysosomal biogenesis PMID: 11940519
- distribution of NHE6 between endosomes and plasma membrane is regulated by RACK1 PMID: 18057008
- Mutations in SLC9A6 cause X-linked mental retardation;males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations. PMID: 18342287
- NHE6 participates in regulation of endosomal pH and provides a basis for understanding loss of NHE6 function leading to a phenotype resembling Angelman syndrome. PMID: 19619532
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相關疾病：Mental retardation, X-linked, syndromic, Christianson type (MRXSCH)
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亞細胞定位：Endosome membrane; Multi-pass membrane protein. Note=Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane.; [Isoform 2]: Recycling endosome membrane; Multi-pass membrane protein.
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蛋白家族：Monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family
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組織特異性：Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.
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