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SLC9A6 Antibody

  • 货号：
    CSB-PA206009
  • 规格：
    ￥2024
  • 图片：
    • Western blot analysis of extracts from RAW264.7 cells,using SLC9A6 antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) SLC9A6 Polyclonal antibody
  • Uniprot No.：
    Q92581
  • 基因名：
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from internal of Human SLC9A6.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:3000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 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.

产品评价

靶点详情

  • 功能：
    Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.
  • 基因功能参考文献：
    1. 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
    2. 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
    3. 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
    4. Epileptic encephalopathy related to mutations in the SLC9A6 genes. PMID: 25818041
    5. 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
    6. This study demonistrated that Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. PMID: 25044251
    7. find interesting gene expression changes in endosomal NHE6 and NHE9 in postmortem autism brains. PMID: 23508127
    8. Data indicate SLC9A6 mutations and the clinical uniformity of male patients with Christianson syndrome in two familieis. PMID: 22931061
    9. We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation in SLC9A6 PMID: 22541666
    10. 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
    11. These observations suggest that NHE6 regulates clathrin-dependent endocytosis of transferrin via pH regulation. PMID: 21881004
    12. 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
    13. 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
    14. NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells PMID: 20130086
    15. NHE6 with alanine substitutions in the membrane-proximal region exhibited no apparent change in localization. PMID: 20364249
    16. 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
    17. results suggest that NHE6 is an endosomal Na(+)/H(+) exchanger that may regulate intravesicular pH and volume and contribute to lysosomal biogenesis PMID: 11940519
    18. distribution of NHE6 between endosomes and plasma membrane is regulated by RACK1 PMID: 18057008
    19. 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
    20. 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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  • 相关疾病：
    Mental retardation, X-linked, syndromic, Christianson type (MRXSCH)
  • 亚细胞定位：
    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.
  • 蛋白家族：
    Monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family
  • 组织特异性：
    Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.
  • 数据库链接：

    HGNC: 11079

    OMIM: 300231

    KEGG: hsa:10479

    STRING: 9606.ENSP00000359729

    UniGene: Hs.62185