| 别名 | ERCC1;DNA excision repair protein ERCC-1 |
| 基因名称 | ERCC1 |
| 蛋白名称 | DNA excision repair protein ERCC-1 |
| 推荐应用 | |
| 反应物种 | Human,Mouse,Rat |
| 存储缓冲液 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Human Gene Link | 2067 |
| Human Swissprot No. | P07992 |
| Mouse Gene ID | 13870 |
| Mouse Swissprot No. | P07903 |
| 特异性 | endogenous |
| 稀释度 | WB 1:1000-1:4000;IF 1:50-1:200;ELISA 1:5000-1:20000; |
| 参考分子量 | MW(Observed):39kD |
| 预测分子量 | MW(Calculated):33kD |
| 运输及保存条件 | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 宿主 | Rabbit |
| 同种型 | IgG,Kappa |
| 背景介绍 | The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein ge |
| 细胞定位 | [Isoform 1]: Nucleus .; [Isoform 2]: Cytoplasm . Nucleus .; [Isoform 3]: Nucleus .; [Isoform 4]: Nucleus . |
| 功能 | Disease:Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.,Function:Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair.,similarity:Belongs to the ERCC1/RAD10/SWI10 family.,subunit:Heterodimer composed of ERCC1 and XPF/ERRC4., |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | [Isoform 1]: Nucleus .; [Isoform 2]: Cytoplasm . Nucleus .; [Isoform 3]: Nucleus .; [Isoform 4]: Nucleus . |
| 组织表达 | Cerebellum,Lung,Ovarian cancer,Uterus, |
| 研究领域 | >>Platinum drug resistance;>>Nucleotide excision repair;>>Fanconi anemia pathway |
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