DNA repair protein XRCC4 (hXRCC4) also known as X-ray repair cross-complementing protein 4 is a protein that in humans is encoded by the XRCC4 gene. XRCC4 is also expressed in many other animals, fungi and plants.

2024年12月25日 · XRCC4 (X-Ray Repair Cross Complementing 4) is a Protein Coding gene. Diseases associated with XRCC4 include Short Stature, Microcephaly, And Endocrine Dysfunction and Isolated Growth Hormone Deficiency, Type Ia. Among its related pathways are HIV Life Cycle and Infectious disease.

2023年2月10日 · XRCC4 is a NHEJ factor identified recently that plays a vital role in repairing DNA double-stranded breaks. Studies have reported the associations between abnormal expression of XRCC4 and tumor susceptibility and radiosensitivity, but the potential biological mechanisms by which XRCC4 exerts effects on tumorigenesis are not fully understood.

由该基因编码的蛋白质与 DNA 连接酶 IV 和 DNA 依赖性蛋白激酶一起发挥修复 DNA 双链断裂的作用。 该蛋白在非同源末端连接和 V (D) J 重组的完成中均发挥作用。 该基因的突变可导致身材矮小、小头畸形和内分泌功能障碍 (SSMED) 。 由于最后一个剪接受体位点的多态性 (rs1805377) ，NM_022406 等替代转录本变体不太可能在某些个体中表达。 [RefSeq 提供，2019 年 10 月]

2000年4月20日 · XRCC4 is a non-homologous end-joining protein employed in DNA double strand break repair and in V (D)J recombination 1, 2. In mice, XRCC4-deficiency causes a pleiotropic...

XRCC4 and MRE11 Roles and Transcriptional Response to Repair of TALEN-Induced Double-Strand DNA Breaks. X-ray scattering reveals disordered linkers and dynamic interfaces in complexes and mechanisms for DNA double-strand break …

通过高通量的CRISPR-cas9突变筛选，作者发现了一种叫做XRCC4的蛋白，此前研究表明XRCC4是DNA损伤修复复合体的成分，而该研究表明XRCC4蛋白的缺失会显著影响Xkr4蛋白破坏磷脂膜结构的活性。 在此基础上，作者发现XRCC4受caspase3的切割而被激活，切割后的XRCC4的C末端能够从细胞核向细胞膜部位转移。 在外界促凋亡刺激下，XRCC4能够调节Xkr4的活性，进而促进磷脂膜的紊乱与磷脂酰丝氨酸的暴露。 （生物谷 Bioon.com）

2021年4月12日 · Reciprocally, XRCC4, while suppressed for its DNA repair function, has a critical role in RIG-I immune signaling through RIG-I interaction. XRCC4 promotes RIG-I signaling by enhancing...

2023年2月10日 · Studies have reported the associations between abnormal expression of XRCC4 and tumor susceptibility and radiosensitivity, but the potential biological mechanisms by which XRCC4 exerts effects on tumorigenesis are not fully understood. This study aimed to systematically investigate the role of XRCC4 across cancer types.

2016年10月4日 · In mice, XRCC4 deficiency causes late embryonic lethality accompanied by defective lymphogenesis and defective neurogenesis manifested by extensive apoptotic death of newly generated postmitotic neuronal cells. They also found similar neuronal developmental defects in embryos that lack DNA ligase IV , an XRCC4-associated protein. These findings ...