CLN3 Antibody

說明書

中文名稱：

CLN3兔多克隆抗體
貨號：

CSB-PA005565GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q13286
基因名：

CLN3
別名：

Batten disease protein antibody; Battenin antibody; BTS antibody; Ceroid lipofuscinosis neuronal 3 antibody; Ceroid lipofuscinosis neuronal 3 juvenile (Batten Spielmeyer Vogt disease) antibody; Ceroid lipofuscinosis neuronal 3 juvenile antibody; CLN 3 antibody; CLN3 antibody; CLN3_HUMAN antibody; JNCL antibody; MGC102840 antibody; Protein CLN3 antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human CLN3
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

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

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IHC,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) 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：

Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as regulation of lysosomal pH, lysosome protein degradation, receptor-mediated endocytosis, autophagy, transport of proteins and lipids from the TGN, apoptosis and synaptic transmission. Facilitates the proteins transport from trans-Golgi network (TGN)-to other membrane compartments such as transport of microdomain-associated proteins to the plasma membrane, IGF2R transport to the lysosome where it regulates the CTSD release leading to regulation of CTSD maturation and thereby APP intracellular processing. Moreover regulates CTSD activity in response to osmotic stress. Also binds galactosylceramide and transports it from the trans Golgi to the rafts, which may have immediate and downstream effects on cell survival by modulating ceramide synthesis. At the plasma membrane, regulates actin-dependent events including filopodia formation, cell migration, and pinocytosis through ARF1-CDC42 pathway and also the cytoskeleton organization through interaction with MYH10 and fodrin leading to the regulation of the plasma membrane association of Na+, K+ ATPase complex. Regulates synaptic transmission in the amygdala, hippocampus, and cerebellum through regulation of synaptic vesicles density and their proximity to active zones leading to modulation of short-term plasticity and age-dependent anxious behavior, learning and memory. Regulates autophagic vacuoles (AVs) maturation by modulating the trafficking between endocytic and autophagolysosomal/lysosomal compartments, which involves vesicle fusion leading to regulation of degradation process. Participates also in cellular homeostasis of compounds such as, water, ions, amino acids, proteins and lipids in several tissue namely in brain and kidney through regulation of their transport and synthesis.
基因功能參考文獻：
1. the results of this study indicate that Cln3 functions in both conventional and unconventional protein secretion and that loss of Cln3 results in deregulated secretion during early development. Importantly, this is the first evidence in any system linking CLN3 function to protein secretion. PMID: 28365442
2. AAV2-CLN3 was efficacious in restoring full-length CLN3 transcript and protein in patient-specific fibroblasts and iPSC-derived retinal neurons. When injected into the subretinal space of wild-type mice, purified AAV2-CLN3 did not show any evidence of retinal toxicity PMID: 27400765
3. The lysosomal enzyme cathepsin D (CTSD) mediates the proteolytic cleavage of PSAP precursor into saposins A-D. Myc-CLN3 colocalized with CTSD and activity of CTSD decreased as myc-CLN3 expression increased, and clearly decreased under hyperosmotic conditions PMID: 28390177
4. This is the first detailed morphological evaluation of CLN3 patients in the first years after the subjective onset of ocular symptoms. CLN3 is characterized by an early degeneration predominant of the first and second neuron compared to other macular and generalized retinal dystrophies. PMID: 27486012
5. The age at onset and natural progression of retinal disease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be associated with genotypic differences. PMID: 28542676
6. CLN3 knockdown inhibits cell proliferation and induces G0/G1 cell cycle arrest in the A2780 cell line and its drug-resistant sub-lines. PMID: 26299671
7. The membrane topology of human CLN3 protein. PMID: 25051496
8. The eyes and vision of heterozygous carriers of CLN3 disease showed normal features when compared to a control group, which controverts a previously suggested retinal dysfunction in these subjects. PMID: 25338278
9. This new model system, which allows for the study of Cln3 function in both single cells and a multicellular organism, together with the observation that expression of human CLN3 restores abnormalities in Dictyostelium cln3- cells PMID: 25330233
10. These results further support an important role for the CLN3 protein in intracellular Ca(2+) handling and in autophagic pathway flux and establish a powerful new platform for therapeutic screening. PMID: 25878248
11. CLN3 mutation is associated with neuronal ceroid lipofuscinosis. PMID: 24271013
12. Genetic testing for CLN3 should be considered in autophagic vacuolar myopathy (AVM), with autophagic vacuoles and sarcolemmal features. PMID: 24827497
13. CLN3 was identified as a novel disease gene for non-syndromic retinal diseases as supported by five unrelated patient families in this study. PMID: 24154662
14. CLN3 is involved in the response and adaptation to cellular stress. PMID: 23840424
15. Protein interaction mapping analysis suggests CLN3 is involved in transmembrane transport, lipid homeostasis, neuronal excitability and link it to G-protein signaling and protein folding/sorting in the endoplasmic reticulum. PMID: 23464991
16. The data presented in this study provide novel insights into the role of CLN3 in late endosomal/lysosomal membrane transport. PMID: 22261744
17. Btn1 controls retrograde sorting by regulating SNARE phosphorylation and assembly, a process that may be adversely affected in Batten Disease patients. PMID: 21987636
18. The predominant distribution of CLN3 reporter neurons in visual, limbic and subcortical motor structures of transgenic mice correlates well with the clinical symptoms of juvenile neuronal ceroid lipofuscinosis. PMID: 20875858
19. 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
20. Data suggest that dysfunction of CLN3P may be causative to dysruption of calcium mediated pathways. PMID: 20933060
21. Previous reports of genotype and clinical juvenile neuronal ceroid lipofuscinosis phenotype differences were unsupported in this investigation, which did not find differences between individuals homozygous or heterozygous for the CLN3 deletion. PMID: 20187884
22. cln3 is present during critical periods of neuronal cell differentiation and brain development PMID: 10509355
23. Identification of a transactivation motif in the CLN3 protein PMID: 11699874
24. juvenile and variant late infantile neuronal ceroid lipofuscinoses have mutated CLN genes encoding lysosomal proteins (review) PMID: 12125809
25. Deletion of glycosylation sites and also mutations within conserved amino acid stretches result in slowed cell growth and apoptosis PMID: 12189165
26. This protein is responsible for Batten Disease. PMID: 12440525
27. Defective transport at the lysosomal membrane caused by an absence of functional CLN3 is the primary biochemical defect that results in Batten disease. PMID: 14660799
28. The presence of CLN3 in endosomes of neurons is functionally important. Endosomal association of the protein was independent of the two lysosomal targeting motifs PMID: 14699076
29. The major mutation is a 1.02 kb deletion, which removes exons 7 and 8. Both homozygotic and heterozygotic deletions at the CLN3 gene site have been associated with the clinical syndromes of juvenile neuronal ceroid-lipofuscinosis. PMID: 15032383
30. These studies identify a novel CLN3 domain that may dictate localization and function of CLN3. PMID: 15240864
31. the second cytoplasmic domain of CLN3 protein has a dileucine motif and a cluster of acidic amino acids which are required for efficient lysosomal targeting PMID: 15469932
32. suggests a link between CLN3 function, microtubule cytoskeleton and endocytic membrane trafficking PMID: 15471887
33. AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif PMID: 15598649
34. Batten disease, an inherited neurodegenerative storage disease affecting children, results from the autosomal recessive inheritance of mutations in Cln3. And is resident in the lysosomal/endosomal membrane. PMID: 15657902
35. We report the discovery of a novel mutation identified as a G to T transversion at nucleotide 49 (G49T) in exon 2 of CLN3, introducing a premature stop codon (E17X) near the N-terminus. This mutation represents the most 5' mutation described to date. PMID: 16087292
36. CLN3 defect in juvenile Batten disease may affect how intracellular levels of arginine are regulated or distributed throughout the cell. PMID: 16251196
37. The CLN3 protein trafficked to the vacuole membrane via early endocytic and pre-vacuolar compartments. PMID: 16291725
38. CLN3P significantly increased the survival rate of the SH-SY5Y neurblastoma cells further evidence that CLN3P has anti-apoptotic properties PMID: 16515873
39. Autophagy is disrupted in juvenile neuronal ceroid lipofuscinosis, likely at the level of autophagic vacuolar maturation in CLN3 knockin mice. PMID: 16714284
40. Co-operative signal structures in different cytoplasmic domains of CLN3 are required for efficient sorting and for transport to the lysosome. PMID: 17286803
41. There is a strong correlation between CLN3 protein expression and synthesis of bis(monoacylglycerol)phosphate. PMID: 17482562
42. Review provides a brief overview and an update of recent research in juvenile neuronal ceroid-lipofuscinosis, specifically that related to the function of CLN3 protein, whose primary function may be that of the enzyme palmitoyl-protein delta-9 desaturase. PMID: 17896996
43. Study concluded that the common mutant CLN3 protein does indeed retain significant function and that juvenile neuronal ceroid lipofuscinoses is a mutation-specific disease phenotype. PMID: 17947292
44. Homozygous Cln3(delta ex7/8) transgenic mice represent the most appropriate disease model for studying the development of the pathogenetic events of juvenile neuronal ceroidlipofuscinoses. PMID: 18265413
45. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. PMID: 18317235
46. a substantial decrease in the transcript level of the truncated CLN3 gene product in cells from 1 kb deletion patients PMID: 18678598
47. CLN3 is essential for trafficking along the route needed for delivery of lysosomal enzymes, and its loss thereby contributes to and may explain the lysosomal dysfunction underlying Batten disease PMID: 18817525
48. CLN3 interacts with Notch and Jun N-terminal kinase signalling pathways. PMID: 19028667
49. S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. PMID: 19299465
50. A new c.597C>A transversion in exon 8 of CLN3 gene, homozygous in all affected family members and not present in 200 alleles of normal controls, is reported. PMID: 19489875
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相關疾病：

Ceroid lipofuscinosis, neuronal, 3 (CLN3)
亞細胞定位：

Lysosome membrane; Multi-pass membrane protein. Late endosome. Lysosome. Golgi apparatus. Golgi apparatus membrane. Golgi apparatus, Golgi stack. Golgi apparatus, trans-Golgi network. Cell membrane. Recycling endosome. Membrane raft. Membrane, caveola. Early endosome membrane. Cell junction, synapse, synaptosome. Late endosome membrane. Cytoplasmic vesicle, autophagosome.
蛋白家族：

Battenin family
組織特異性：

Expressed in the cortical brain, pancreas, spleen, and testis with weaker expression in the peripheral nerve (at protein level). Highly expressed in gray matter (at protein level).
數據庫鏈接：

HGNC: 2074

OMIM: 204200

KEGG: hsa:1201

STRING: 9606.ENSP00000353073

UniGene: Hs.534667

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