TINF2 Antibody

說明書

中文名稱：

TINF2兔多克隆抗體
貨號：

CSB-PA023566GA01HU
規(guī)格：

￥3,900
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

Uniprot No.：

Q9BSI4
基因名：

TINF2
別名：

AW552114 antibody; D14Wsu146e antibody; DKCA3 antibody; MGC94711 antibody; TERF 1 (TRF 1) interacting nuclear factor 2 antibody; TERF 1 interacting nuclear factor 2 antibody; TERF1 (TRF1) interacting nuclear factor 2 antibody; TERF1 interacting nuclear factor 2 antibody; TERF1-interacting nuclear factor 2 antibody; Tin 2 antibody; TIN2 antibody; TINF 2 antibody; Tinf2 antibody; TINF2_HUMAN antibody; TRF 1 interacting nuclear factor 2 antibody; TRF1 interacting nuclear factor 2 antibody; TRF1-interacting nuclear protein 2 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Human TIN2
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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) 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(chǎn)品評價

靶點(diǎn)詳情

功能：

Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.
基因功能參考文獻(xiàn)：
1. The TIN2 plays an important role in maintaining the stable shelterin complex required for proper telomere end protection. PMID: 29160297
2. We report ophthalmic findings in twins with Revesz syndrome due to a previously unreported mutation in TINF2 and propose that phenotypic and molecular overlaps between DKC spectrum disorders and pediatric retinal vasculopathies may reflect a shared pathophysiologic basis. PMID: 28095086
3. demonstrate here the presence of a novel spliced isoform of TIN2 in chronic lymphocytic leukemia (CLL), related to deletion of exon 2 in the TIN2 gene PMID: 28575699
4. data supports a mechanism whereby telomerase deficiency and subsequent shortened telomeres initiate a DNA damage response and create a pro-oxidant environment, especially in Dyskeratosis Congenita cells carrying TINF2 mutations PMID: 26859482
5. telomerase elongates telomeres at a reduced frequency in TIN2-R282H heterozygous cells; this recruitment defect is further corroborated by examining the effect of this mutation on telomerase-telomere co-localization. PMID: 26230315
6. Our findings identify TINF2 as a mutant telomere gene in familial pulmonary fibrosis and suggest that infertility may precede the presentation of pulmonary fibrosis in a small subset of adults with telomere syndromes PMID: 25539146
7. A potential mitotic regulation of TIN2 by phosphorylation, is reported. PMID: 23977114
8. results suggest a link between telomeric proteins (TIN2)and metabolic control, providing an additional mechanism by which telomeric proteins regulate cancer and aging PMID: 22885005
9. Results suggests that the disruption of TIN2-TRF1 interaction may contribute to the severe dyskeratosis congenita phenotype observed in the context of the TIN2 truncation mutation. PMID: 21477109
10. The positive correlation between telomere length in dyskeratosis congenital and percent of LINE-1 methylation was restricted to TINF2 mutations. PMID: 21981348
11. Frameshift or nonsense mutations in TIN2 gene having very short telomeres are found in patients with dyskeratosis congenita. PMID: 21199492
12. Siah2 acts as an E3 ligase to directly ubiquitylate TIN2 in vitro. PMID: 22064479
13. These results demonstrate the important roles that Sp1 and NF-kappaB play in regulating the expression of the human telomere-binding protein TIN2. PMID: 21731707
14. The presence of dysfunctional telomeres in chronic lymphocytic leukemia did not correlate with telomere shortening or chromatin marks deregulation but with a down-regulation of 2 shelterin genes: ACD and TINF2. PMID: 21355086
15. TIN2 mutations in DC may compromise the telomere recruitment of telomerase, leading to telomere shortening and the associated pathogenesis. PMID: 21536674
16. exon 6 of TINF2 natural mutations in 2/142 Japanese patients with acquired acquired bone marrow failure syndromes PMID: 20560964
17. TINF2 mutation of shelterin complex is associated with dyskeratosis congenita. PMID: 20979174
18. The expression of TINF2 may work to reduce the telomere length in precancerous lesions and offer new insight into the mechanism of carcinogenesis in gastric cancer. PMID: 20127252
19. TIN2-anchored TPP1 plays a major role in the recruitment of telomerase to telomeres in human cells. PMID: 20404094
20. Co-localises with the interstitial TTAGGG repeats in interstitial telomeres. PMID: 11938440
21. Down-regulation of TRF1, TRF2 and TIN2 genes is important to maintain telomeric DNA for gastric cancers. PMID: 12530079
22. TIN2 alters the conformation of TRF1, which favours a tertiary telomeric structure that hinders telomerase from gaining access to telomeres PMID: 12835755
23. Partial knockdown of TIN2 by small hairpin RNA in a telomerase-positive cell line resulted in telomere elongation, which is typical of reduced TRF1 function. PMID: 15133513
24. TIN2 mutants defective in binding of TRF1 or TRF2 induce a DNA damage response and destabilize TRF1 and TRF2 at telomeres in human cells. PMID: 15292264
25. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres PMID: 15316005
26. May be involved in multistep hepatocarcinogenesis by playing crucial role in telomere shortening. PMID: 15632001
27. a novel extra-telomeric organization of TIN2 is associated with the control of cell proliferation; TIN2 is an important regulator of mammary epithelial differentiation PMID: 15741234
28. coordinated interactions among TPP1, TIN2, TRF1, and TRF2 may ensure robust assembly of the telosome, telomere targeting of its subunits, and, ultimately, regulated telomere maintenance PMID: 16880378
29. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. PMID: 18252230
30. Results suggest that distinct TIN2 complexes exist and that TIN2-15C-sensitive subcomplexes are particularly important for cell survival in the absence of functional p53. PMID: 18443218
31. In a large series, TINF2 mutations account for approximately 11% of all patients with dyskeratosis congenita. PMID: 18669893
32. conclude that a significant proportion of patients who underwent unrelated donor hematopoietic stem cell transplantation for severe aplastic anemia harbored mutations in TINF2 and may have had occult dyskeratosis congenita PMID: 19090550
33. Our results suggest a dual role for TIN2 in mediating the function of the shelterin complex and tethering telomeres to the nuclear matrix. PMID: 19229133
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相關(guān)疾病：

Dyskeratosis congenita, autosomal dominant, 3 (DKCA3); Dyskeratosis congenita, autosomal dominant, 5 (DKCA5)
亞細(xì)胞定位：

Nucleus. Chromosome, telomere. Note=Associated with telomeres.; [Isoform 1]: Nucleus matrix.
組織特異性：

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
數(shù)據(jù)庫鏈接：

HGNC: 11824

OMIM: 268130

KEGG: hsa:26277

STRING: 9606.ENSP00000267415

UniGene: Hs.496191

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