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This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]
[中文简述(自动翻译):]  这个基因编码的DNA结合蛋白,其是在转录偶联切除修复重要。该编码的蛋白已经ATP刺激的ATP酶活性,与几个转录和切除修复蛋白相互作用,并可能在促进DNA修复部位形成复合物。与每个的产物共享序列,并导致一种融合蛋白:此基因和相邻PGBD3基因(267004 GeneID)之间发生在该基因突变为B科凯恩综合征类型和cerebrooculofacioskeletal综合征相关1.天然存在的通读转录个人基因。该通读轨迹由GeneID表示:101243544。 [由RefSeq的,2013年3月提供]
ERCC6基因(以及对应的蛋白质)的细胞分布位置:
ERCC6基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cerebrooculofacioskeletal Syndrome 1 | 0.481085767 | 5 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Cockayne Syndrome, Type II | 0.441085767 | 5 | 21 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| De Sanctis-Cacchione syndrome | 0.24 | 1 | 1 | CLINVAR_CTD_human |
| Cockayne Syndrome | 0.16371558 | 68 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Lung Neoplasms | 0.128173051 | 3 | 0 | CTD_human_LHGDN |
| Age related macular degeneration | 0.128001298 | 3 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Cockayne Syndrome, Type I | 0.122714419 | 10 | 0 | BeFree_ORPHANET |
| Arthrogryposis | 0.12 | 1 | 0 | CTD_human |
| Growth Disorders | 0.12 | 1 | 0 | CTD_human |
| Microcephaly | 0.12 | 2 | 0 | CTD_human |
| Microphthalmos | 0.12 | 1 | 0 | CTD_human |
| Psychomotor Disorders | 0.12 | 1 | 0 | CTD_human |
| Cataract | 0.12 | 1 | 0 | CTD_human |
| Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
| Cockayne Syndrome, Type III | 0.12 | 0 | 0 | ORPHANET |
| CAMFAK syndrome | 0.12 | 0 | 0 | ORPHANET |
| Pena Shokeir syndrome Type 2 | 0.12 | 0 | 0 | ORPHANET |
| UV-SENSITIVE SYNDROME 1 | 0.12 | 0 | 0 | CTD_human |
| Transient Ischemic Attack | 0.08 | 1 | 0 | RGD |
| Infarction, Middle Cerebral Artery | 0.08 | 1 | 0 | RGD |
| Malignant neoplasm of urinary bladder | 0.015287959 | 7 | 3 | BeFree_GAD |
| Malignant neoplasm of lung | 0.015016517 | 7 | 0 | BeFree_GAD |
| Malignant neoplasm of breast | 0.00973957 | 4 | 6 | BeFree_GAD |
| Mouth Neoplasms | 0.005091382 | 1 | 0 | GAD_LHGDN |
| Malignant neoplasm of prostate | 0.002909916 | 3 | 2 | BeFree_GAD |
| Epithelial ovarian cancer | 0.002638474 | 2 | 0 | BeFree_GAD |
| Colorectal Cancer | 0.002638474 | 1 | 0 | BeFree_GAD |
| Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
| Colorectal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| DNA Damage | 0.002367032 | 1 | 0 | GAD |
| Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
| Laryngeal neoplasm | 0.002367032 | 1 | 0 | GAD |
| Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
| Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
| Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
| Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Low Vision | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of esophagus | 0.002367032 | 1 | 0 | GAD |
| Mammary Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Carcinoma of bladder | 0.001085767 | 4 | 3 | BeFree |
| Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
| PHOTOPAROXYSMAL RESPONSE 1 | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 2 | BeFree |
| Xeroderma Pigmentosum | 0.000542884 | 2 | 0 | BeFree |
| Premature aging syndrome | 0.000542884 | 2 | 0 | BeFree |
| Prostate carcinoma | 0.000542884 | 2 | 2 | BeFree |
| Stomach Carcinoma | 0.000542884 | 2 | 2 | BeFree |
| UV-Sensitive Syndrome | 0.000542884 | 2 | 0 | BeFree |
| AIDS related complex | 0.000271442 | 1 | 0 | BeFree |
| Cachexia | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of larynx | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of skin | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Failure to Thrive | 0.000271442 | 1 | 0 | BeFree |
| Gastritis, Atrophic | 0.000271442 | 1 | 1 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
| Macular degeneration | 0.000271442 | 1 | 0 | BeFree |
| nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cancer of Head and Neck | 0.000271442 | 1 | 1 | BeFree |
| Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of larynx | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 6 | BeFree |
| Skin carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Growth failure | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Experimental Organism Basal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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