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This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
[中文简述(自动翻译):]  这个基因编码的蛋白质所必需的紫外线损伤的DNA的修复。这种蛋白是在核苷酸切除修复参与异二聚体蛋白复合物的小亚基,并且这种复杂介导的组蛋白H3和H4,这有利于对DNA损伤的细胞应答的泛素化。此亚基似乎是必需的DNA结合。突变该基因导致着色性干皮互补组E,隐性疾病,其特征是于UV光的增加的灵敏度和皮肤癌发展的高倾向,在伴随着神经异常某些情况下英寸已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2014年7月提供]
DDB2基因(以及对应的蛋白质)的细胞分布位置:
DDB2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | 0.560542884 | 4 | 4 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Xeroderma Pigmentosum | 0.005710211 | 12 | 0 | BeFree_LHGDN |
Hepatitis B | 0.0054487 | 2 | 0 | LHGDN |
Malignant neoplasm of breast | 0.003452799 | 5 | 0 | BeFree_GAD |
Mammary Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Malignant neoplasm of lung | 0.002909916 | 2 | 0 | BeFree_GAD |
Facial Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Glioblastoma | 0.00272435 | 1 | 0 | LHGDN |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Head and Neck Neoplasms | 0.002367032 | 1 | 0 | GAD |
Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
Neoplasm Recurrence, Local | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
Epithelial ovarian cancer | 0.002367032 | 1 | 0 | GAD |
Ovarian Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of ovary | 0.001357209 | 5 | 0 | BeFree |
Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of skin | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
Skin Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
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