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  4. Recombinant Human Sodium/hydrogen exchanger 6 (SLC9A6), partial

Recombinant Human Sodium/hydrogen exchanger 6 (SLC9A6), partial

  • 货号：
    CSB-YP821677HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP821677HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP821677HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP821677HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP821677HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    3732426M05; 6430520C02Rik; KIAA0267; mKIAA0267; MRSA; Na(+)/H(+) exchanger 6; NHE-6; NHE6; OTTHUMP00000024089; OTTHUMP00000024090; RGD1563582; RP11-274K13.1; RP23-105E2.4; SL9A6_HUMAN; SLC9A6; Sodium/hydrogen exchanger 6; Solute carrier family 9 (sodium/hydrogen exchanger); isoform 6; Solute carrier family 9 (sodium/hydrogen exchanger); member 6; Solute carrier family 9 member 6; solute carrier family 9; subfamily A (NHE6; cation proton antiporter 6); member 6
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

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