乳腺癌易感基因相关蛋白2
规格：1mg/1ml
英文名： PALB2
别名： DKFZp667I166; 4732427B05; BC066140; DKFZp686E1054; FANCN; FANCN GENE; FLJ21816; OTTMUSP; PALB2; partner and localizer of BRCA2; RGD1304759; PALB2_HUMAN.
分子量： 131kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human PALB2 C-
交叉反应：Human, Mouse, Rat, Cow,
细胞定位：
乳腺癌易感基因相关蛋白2产品介绍：background: This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. 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 proteosome-mediated degradation. Function: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. 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. Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair 乳腺癌易感基因相关蛋白2and 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. Subunit: Homooligomer. Oligomerization is essential for its focal accumulation at DNA breaks. Part of a trimeric complex containing BRCA1, BRCA2 and PALB2. Interacts with BRCA1 and this interaction is essential for its function in HRR. Interacts with RAD51, BRCA2, RAD51AP1 and MORF4L1/MRG15. Subcellular Location: Nucleus. Note=Colocalizes with BRCA2 in nuclear foci. DISEASE: Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Breast cancer susceptibility is strongly associated with PALB2 truncating mutations. Conversely, rare missense mutations do not strongly influence breast cancer risk (PubMed:22241545). Fanconi anemia complementation group N (FANCN) [MIM:610832]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Note=The disease is caused by mutations affecting the gene represented in this entry. Pancreatic cancer 3 (PNCA3) [MIM:613348]: A malignant 乳腺癌易感基因相关蛋白2neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. Note=The disease is caused by mutations affecting the gene represented in this entry. Similarity: Contains 7 WD repeats. Gene ID: 79728 Database links: Entrez Gene: 79728 Human Entrez Gene: 233826 Mouse Entrez Gene: 293452 Rat Omim: 610355 Human SwissProt: Q86YC2 Human SwissProt: Q3U0P1 Mouse Unigene: 444664 Human Unigene: 38348 Mouse Unigene: 43638 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. BRCA1,BRCA2和其他已经确定的易感性基因，只能解释不到一半的乳腺癌已知遗传性易感特征，芬兰科学家对１１３个有乳腺癌患者的家族进行了研究。他们在３个家族中发现了一种名为ＰＡＬＢ２的基因，这种基因出现缺陷与家族成员患乳腺癌关系密切。PALB2基因与BRCA2基因在DNA修复中发生作用，新发现的突变会削弱这一功能。 研究结果表明，ＰＡＬＢ２基因出现缺陷使这些家族成员患乳腺癌的危险增加３倍。另外，这一基因出现缺陷也使这些家族的男性成员患前列腺癌的危险增加。
乳腺癌易感基因相关蛋白2产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 Flow-Cyt=1:20-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：肿瘤 神经生物学 信号转导 细胞凋亡
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid