PALB2 Antibody

說明書

中文名稱：

PALB2兔多克隆抗體
貨號：

CSB-PA017411GA01HU
規(guī)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.：

Q86YC2
基因名：

PALB2
別名：

4732427B05 antibody; BC066140 antibody; DKFZp667I166 antibody; DKFZp686E1054 antibody; FANCN antibody; FANCN GENE antibody; FLJ21816 antibody; OTTMUSP00000025884 antibody; PALB2 antibody; PALB2_HUMAN antibody; Partner and localizer of BRCA2 antibody; PNCA3 antibody; RGD1304759 antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human PALB2
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
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.

產品評價

靶點詳情

功能：

Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair and checkpoint functions of BRCA2. May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation. Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity.
基因功能參考文獻：
1. Our data presented the germline mutation status of PALB2 in Chinese breast cancer patients, suggesting that loss-of-function germline mutations of PALB2 are important in both familial and sporadic breast cancer. Clinically, these data may be helpful in genetic counseling of breast cancer patients with PALB2 germline mutation. PMID: 28825143
2. Truncating variants in PALB2, ATM and CHEK2 , but not XRCC2 were associated with increased breast cancer risk. PMID: 28779002
3. PALB2 associates with active genes through its major binding partner, MRG15, which recognizes histone H3 trimethylated at lysine 36 (H3K36me3) by the SETD2 methyltransferase PMID: 28673974
4. the involvement of PALB2 mutations in the predisposition to cancer and the role of PALB2 in stimulating error-free DNA repair through the FA/HR pathway. PMID: 28858227
5. FANCD2 and PALB2, as indicators of the upstream and downstream arms, respectively, colocalize independently of each other in response to DNA damage. PMID: 27277787
6. The findings demonstrate that RNF168 couples PALB2-dependent homologous recombination to H2A ubiquitylation to promote DNA repair and preserve genome integrity. PMID: 28240985
7. The results of the present study suggest that mutations in the PALB2 gene may be particularly relevant to breast cancer susceptibility in the Jamaican population. PMID: 28194609
8. We identified two PALB2 mutations that are founder alleles in Italian families, one of which is, independently, also a founder mutation in American-Hispanic breast cancers. PMID: 27624329
9. Our results indicate that the PALB2 exon 13 duplication is a pathogenic variant. The presence of the PALB2 duplication in the proband affected with high-grade serous ovarian cancer suggests that PALB2 might be associated with a predisposition to ovarian cancer. PMID: 27757719
10. We showed that the mutation frequency of RAD51C in Japanese familial breast cancer cases was similar to that in Western countries and that the prevalence of deleterious mutation of PALB2 was possibly lower. Furthermore, our results suggested that BRIP1 mutation frequency in Japan might differ from that in Western countries PMID: 28796317
11. Study have shown that mutations in BRCA1, BRCA2, and PALB2 account for more than 10 % of breast cancer in Trinidad and Tobago. 25 different mutations identified; of these, four mutations were seen in two patients each. PMID: 27469594
12. Germline mutations in the PALB2 gene were observed at a frequency of approximately 1.5% in Polish breast and/or ovarian cancer patients PMID: 28279176
13. Prevalence of germline PALB2 mutations among women with epithelial ovarian cancer in Ontario PMID: 27631815
14. inherited pathogenic variants in PALB2 were associated with high risks of breast cancer PMID: 28418444
15. Findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression. PMID: 28319063
16. In this paper, we describe an extension to the BOADICEA model to incorporate the effects of intermediate risk variants for breast cancer, specifically loss of function mutations in the three genes for which the evidence for association is clearest and the risk estimates most precise: PALB2, CHEK2 and ATM PMID: 27464310
17. Data show an increase of error-prone single-strand annealing (SSA) and microhomology-mediated end-joining (MMEJ) in the PALB2 (partner and localizer of BRCA2) c.1592delT mutation carriers. PMID: 26640152
18. Studies suggest that people with high risk of breast cancer and negative BRCA1/BRCA2 should be tested for PALB2 mutations. PMID: 28791855
19. PALB2 rare variants were associated with an increased risk of breast cancer. PMID: 27595995
20. our findings highlight a critical importance of PALB2 phosphorylation as a novel regulatory step in genome maintenance after genotoxic stress. PMID: 27113759
21. identification of a hidden nuclear export signal (NES) within the WD40 domain of PALB2 and found that the W1038X truncation leads to the exposure of this NES to CRM1, an export protein PMID: 28158555
22. PALB2 mutation along with BRCA1 mutation confers chemoresistance in breast cancer. PMID: 28124401
23. Germline mutation in PALB2 gene is associated with neoadjuvant therapy response in triple negative breast patients. PMID: 27328445
24. Germline PALB2 mutation was found in patients with hereditary and sporadic gastric cancer. PMID: 28024868
25. PALB2 is involved in BC risk. PMID: 27648926
26. we describe a genetic approach to examine the functional significance of the interaction between BRCA2 and PALB2 by generating a knock-in mouse model of Brca2 carrying a single amino acid change (Gly25Arg, Brca2G25R) that disrupts this interaction. In addition, we have combined Brca2G25R homozygosity as well as hemizygosity with Palb2 and Trp53 heterozygosity . PMID: 27490902
27. Results identified novel intronic mutations in PALB2 gene associated with early-onset breast cancer patients from Turkey. PABL2 mutations accounted for 4.03 % in BRCA1/2-negative Turkish patients. PMID: 27573125
28. rs120963 and rs249954 of the PALB2 gene are associated with increased breast cancer risk, and the association of rs249935 with breast cancer risk may be modified by the tumor pathological characteristics. PMID: 26981788
29. PALB2 mutations are associated with susceptibility to Pancreatic ductal adenocarcinoma in the Czech Republic. PMID: 27106063
30. PALB2 germline mutations are associated with breast and/or ovarian cancer. PMID: 26411315
31. 87 out of 91 (95.6%) primary tumors were positive for PALB2 expression, as checked at the mRNA level. PMID: 26526077
32. PALB2 mutations account for a small, but not negligible, proportion of patients with hereditary predisposition to breast cancer in the Xinjing region of China. PMID: 26489409
33. a foundation for the formation and bioactivity of the G-quadruplex in the promoter region of PALB2 gene PMID: 26645143
34. PALB2 mutations make a small contribution to the heritable breast cancer susceptibility in French population. PMID: 26564480
35. Although patient cells were unable to form Rad51 foci following exposure to either DNA damaging agent, U2OS cells, in which the mutant PALB2 with in frame skip of exon 6 was induced, did show recruitment of Rad51 to foci following damage. PMID: 26990772
36. The aim of this study was to determine the frequency and spectrum of germline mutations in BRCA1, BRCA2 and PALB2 and to evaluate the presence of the CHEK2 c.1100delC allele in these patients. PMID: 26577449
37. PALB2 Mutation is associated with Breast Cancer. PMID: 26219241
38. Novel PALB2 mutation was found in a cohort of Italian breast cancer patients. PMID: 25666743
39. Germ-line DNA samples from 727 unrelated probands with positive family history (521 met criteria for familial pancreatic cancer) were tested for mutations in BRCA1 and BRCA2, PALB2, and CDKN2A. PMID: 25356972
40. The truncating variants in PALB2 as high-penetrance breast cancer susceptibility alleles. PMID: 26283626
41. Two novel heterozygous mutations predicted to alter the function of PALB2 were identified (c.2014G>C, p.E672Q and c.2993G>A, p.G998E). Notably, both of these mutations co-existed in BRCA1 and BRCA2 families PMID: 25833210
42. Truncating PALB2 mutations were detected in families with breast cancer negative for which a BRCA1 or BRCA2 mutation has not been found. PMID: 25794774
43. Our results suggest that PALB2 c.1676A > G and c.2993C > T play roles in BC risk in women with a strong family history of BC. PMID: 25636233
44. This study showed the presence of a PALB2 truncating mutation in a case of male breast cancer. PMID: 25529982
45. Overall our data do not support a case for PALB2 being associated with melanoma predisposition. PMID: 24949998
46. Women with a PALB2 mutation face an increased risk of breast cancer and might be at a higher risk of death from breast cancer compared with non-carriers. PMID: 25959805
47. Mutations in the PALB2 gene are responsible for a small but significant percentage of cancer risks in familial breast and pancreatic cancer families PMID: 25542327
48. in the Italian population also, deleterious mutations of PALB2 are relatively frequent predisposing factors for breast cancer and may be associated with high risk of the disease. PMID: 24556926
49. About 1.5% (95% CI 0.6to 2.4) of Australasian multiple-case breast cancer families attending clinics are segregating protein-truncating mutations in PALB2, most being PALB2 c.3113G>A, p.Trp1038*. PMID: 23448497
50. PALB2 mutation is associated with response to therapy in neoplasms. PMID: 25263539
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相關疾病：

Breast cancer (BC); Fanconi anemia complementation group N (FANCN); Pancreatic cancer 3 (PNCA3)
亞細胞定位：

Nucleus.
數(shù)據(jù)庫鏈接：

HGNC: 26144

OMIM: 114480

KEGG: hsa:79728

STRING: 9606.ENSP00000261584

UniGene: Hs.444664

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