SLC9A6 Antibody

說明書

中文名稱：

SLC9A6兔多克隆抗體
貨號：

CSB-PA006551
規格：

￥1090
圖片：
Western Blot analysis of RAW cells using NHE-6 Polyclonal Antibody
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q92581
基因名：

SLC9A6
別名：

3732426M05 antibody; 6430520C02Rik antibody; KIAA0267 antibody; mKIAA0267 antibody; MRSA antibody; Na(+)/H(+) exchanger 6 antibody; NHE-6 antibody; NHE6 antibody; OTTHUMP00000024089 antibody; OTTHUMP00000024090 antibody; RGD1563582 antibody; RP11-274K13.1 antibody; RP23-105E2.4 antibody; SL9A6_HUMAN antibody; SLC9A6 antibody; Sodium/hydrogen exchanger 6 antibody; Solute carrier family 9 (sodium/hydrogen exchanger); isoform 6 antibody; Solute carrier family 9 (sodium/hydrogen exchanger); member 6 antibody; Solute carrier family 9 member 6 antibody; solute carrier family 9; subfamily A (NHE6; cation proton antiporter 6); member 6 antibody
宿主：

Rabbit
反應種屬：

Human,Mouse
免疫原：

Synthesized peptide derived from the Internal region of Human NHE-6.
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
抗體亞型：

IgG
純化方式：

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
產品提供形式：

Liquid
應用范圍：

WB, ELISA

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:2000
ELISA	1:40000

Protocols：

Western Blotting (WB) Protocol
ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.
基因功能參考文獻：
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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相關疾病：

Mental retardation, X-linked, syndromic, Christianson type (MRXSCH)
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.
蛋白家族：

Monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family
組織特異性：

Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.
數據庫鏈接：

HGNC: 11079

OMIM: 300231

KEGG: hsa:10479

STRING: 9606.ENSP00000359729

UniGene: Hs.62185

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