| 货号 | 2814S |
| 反应种属 | Human/Rat |
| 来源宿主 | Rabbit |
| 应用 | W |
| 目标/特异性 | RecQ4 Antibody detects endogenous levels of total RecQ4 protein. |
| 使用方法 | WB(1:1000) |
| 供应商 | CST |
| 灵敏度 | Endogenous |
| 背景 | RECQL4 is a member of the RecQ family of DNA helicases that plays an important role in global genomic stability. There are five members of this family in humans, and mutations in three of these, BLM, WRN and RECQL4, give rise to disorders that are characterized by premature aging and a predisposition to cancer (1). Despite the presence of a helicase domain, no helicase activity has been reported for RECQL4. Rather, RECQL4 has an ATPase function that is stimulated by ssDNA, and a ssDNA annealing activity that is inhibited by RPA (2). RECQL4 has been reported to interact with ubiquitin ligases UBR1 and UBR2 (3). The role of RECQL4 in tumor suppression and the maintenance of genomic integrity has been attributed to it’s activities associated with the regulation of DNA replication, and DNA recombination and repair (4-6). Mutations in the RECQL4 gene have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) - a disorder characterized by growth deficiency, skin and skeletal abnormalities, and cancer predisposition. Two more autosomal recessive disorders have been associated with RECQL4 gene mutations: RAPADILINO, and Baller-Gerold syndromes (4).RECQL4是DNA解旋酶RecQ家族的一员，在整体基因组稳定性过程中发挥着重要作用。人类中该家族含有五个成员，其中的三个(BLM，WRN和RECQL4)发生突变会引起不同的功能紊乱如早衰和癌症易感性(1)。尽管都有解旋酶结构域，但是RECQL4的解旋酶活性未见报道。相反地，RECQL4具有ssDNA激活的ATPase功能且ssDNA的退火活性可被RPA抑制(2)。RECQL4被报道可与泛素连接酶UBR1和UBR2相互作用(3)。RECQL4在肿瘤抑制和基因组完整性维持中的作用归因于其调节DNA复制、重组和修复的相关活性(4-6)。RECQL4基因的突变已在色素沉着综合征的子集病人中被鉴定，该病的主要特征有生长缺陷，皮肤和骨骼异常以及癌症易感性。另外两个常染色体隐性紊乱，RAPADILINO和Baller-Gerold综合征，已被发现和RECQL4基因突变有关(4)。 |
| 存放说明 | -20C |
| 计算分子量 | 150 |
| 参考文献 | 1 . Hanada, K. and Hickson, I.D. (2007) Cell Mol Life Sci 64, 2306-22. 2 . Macris, M.A. et al. (2006) DNA Repair (Amst) 5, 172-80. 3 . Yin, J. et al. (2004) Hum Mol Genet 13, 2421-30. 4 . Dietschy, T. et al. (2007) Cell Mol Life Sci 64, 796-802. 5 . LeRoy, G. et al. (2005) Nucleic Acids Res 33, 6251-7. 6 . Sengupta, S. et al. (2005) Oncogene 24, 1738-48. |
Western blot analysis of extracts of HeLa, A431 and H3255 cells using RecQ4 Antibody.Western blot 方法检测 HeLa, A431 和 H3255 细胞提取物，使用的抗体为RecQ4 Antibody。 |
