CLN6 Antibody

中文名稱：

CLN6兔多克隆抗體
貨號(hào)：

CSB-PA030158
規(guī)格：

￥1090
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

Uniprot No.：

Q9NWW5
基因名：

CLN6
別名：

CLN6; Ceroid-lipofuscinosis neuronal protein 6; Protein CLN6
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Synthesized peptide derived from the C-terminal region of Human CLN6.
免疫原種屬：

Homo sapiens (Human)
標(biāo)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(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

WB, IHC, ELISA

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:2000
IHC	1:100-1:300
ELISA	1:40000

Protocols：

Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
ELISA Protocol
儲(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

基因功能參考文獻(xiàn)：
1. The CLN6 is not only a molecular entity of the anti-aggregate activity conferred by the ER manipulation using TMalphaBC, but also serves as a potential target of therapeutic interventions. PMID: 28476624
2. describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6. PMID: 26115733
3. study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses. PMID: 24581221
4. The study describes the first report in the North of Morocco of the CLN6 p.I154del mutation in 3 patients belonging to a large consanguineous family. PMID: 23180398
5. our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy PMID: 22883287
6. CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival. PMID: 21359198
7. Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy. PMID: 21549341
8. Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported. PMID: 20020536
9. gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein PMID: 11727201
10. novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes neuronal ceroid lipofuscinosis in mouse and man PMID: 11791207
11. Eight novel mutations identified in CLN6 in 26 families with late infantile neuronal ceroid lipofuscinosis. PMID: 12815591
12. ER-resident CLN6 protein lead to lysosomal dysfunctions, which may result in lysosomal accumulation of storage material PMID: 15010453
13. CLN6 is an ER resident protein, the activity of which, despite this location, must contribute to lysosomal function. PMID: 15265688
14. These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish variant late-infantile neuronal ceroid lipofuscinosis patients. PMID: 15996215
15. Cholesterol accumulation in lysosomes suggests a homeostasis block as a result of CLN6p deficiency, while dysfunctional endosomal/lysosomal vesicles may act as one of the triggers for apoptosis and cell death. PMID: 16857350
16. CLN6 maintains its endoplasmic reticulum localization by expressing retention signals present in both the N-terminal cytosolic domain and in the carboxy-proximal transmembrane domains 6 and 7. PMID: 17453415
17. knockdown of SEL1L [sel-1 suppressor of lin-12-like (Caenorhabditis elegans)], a member of an E3 ubiquitin ligase complex involved in ER protein extraction, rescued significant amounts of Cln6(G123D) and Cln6(M241T) polypeptides. PMID: 18811591
18. 11 mutations in patients with neuronal ceroid lipofuscinoses, eight of which are novel, were detected in CLN6, all predicting a direct impairing of the putative gene function. PMID: 19135028
19. three families with CLN6-associated variant late infantile neuronal ceroid lipofuscinosis from Saudi Arabia are described; one had a novel mutation in the CLN6 gene PMID: 19520283
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相關(guān)疾病：

Ceroid lipofuscinosis, neuronal, 6 (CLN6); Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
亞細(xì)胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 2077

OMIM: 204300

KEGG: hsa:54982

STRING: 9606.ENSP00000249806

UniGene: Hs.584921

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