CLN6 Antibody

說明書

中文名稱：

CLN6兔多克隆抗體
貨號：

CSB-PA167979
規格：

￥2024
圖片：
Western blot analysis of extracts from HeLa cells, using CLN6 antibody.

Immunohistochemistry analysis of paraffin-embedded human cervix tissue using CLN6 antibody.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) CLN6 Polyclonal antibody
Uniprot No.：

Q9NWW5
基因名：

CLN6
別名：

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

Rabbit
反應種屬：

Human
免疫原：

Synthesized peptide derived from internal of Human CLN6.
免疫原種屬：

Homo sapiens (Human)
克隆類型：

Polyclonal
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.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IHC

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:3000
IHC	1:50-1:100

Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) 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

基因功能參考文獻：
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
顯示更多

收起更多
相關疾病：

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

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum.
數據庫鏈接：

HGNC: 2077

OMIM: 204300

KEGG: hsa:54982

STRING: 9606.ENSP00000249806

UniGene: Hs.584921

Most popular with customers

YWHAG Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC

Species Reactivity: Human
YWHAB Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC, IF, FC

Species Reactivity: Human, Mouse, Rat
Phospho-YAP1 (S127) Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC

Species Reactivity: Human
XRCC5 Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC, IF

Species Reactivity: Human
XPNPEP1 Recombinant Monoclonal Antibody

Applications: ELISA, IHC, FC

Species Reactivity: Human
XDH Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC

Species Reactivity: Human
WT1 Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC

Species Reactivity: Human
WFDC2 Recombinant Monoclonal Antibody

Applications: ELISA, WB, FC

Species Reactivity: Human