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This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
[中文简述(自动翻译):]  此基因是RAD51家族的一个成员。 RAD51家族成员是高度相似的细菌的RecA和酿酒酵母的Rad51和已知参与同源重组和DNA修复。这种蛋白质可以与其他RAD51旁系同源相互作用并据报道,对霍利迪交叉分辨率重要。在这种基因突变与范可尼贫血样综合征相关联。这种基因是四个定位于17q23染色体的一个区域,其中扩增在乳房肿瘤经常发生的。扩增期间四种基因的过度表达已被观察到,并提出在肿瘤进展可能发挥的作用。选择性剪接结果在多个抄本变形。 [由RefSeq的,2013年7月提供]
RAD51C基因(以及对应的蛋白质)的细胞分布位置:
RAD51C基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O | 0.36 | 1 | 6 | CLINVAR_CTD_human_UNIPROT |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | 0.36 | 2 | 5 | CLINVAR_CTD_human_UNIPROT |
Fanconi Anemia | 0.243800186 | 14 | 1 | BeFree_CTD_human_ORPHANET |
Hereditary Breast and Ovarian Cancer Syndrome | 0.121357209 | 5 | 0 | BeFree_ORPHANET |
ovarian neoplasm | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Neoplastic Syndromes, Hereditary | 0.12 | 0 | 28 | CLINVAR |
Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Malignant neoplasm of breast | 0.016721114 | 23 | 5 | BeFree_GAD |
Malignant neoplasm of ovary | 0.011791553 | 27 | 0 | BeFree_GAD |
Ovarian Carcinoma | 0.007328931 | 27 | 0 | BeFree |
Breast Carcinoma | 0.004885954 | 18 | 5 | BeFree |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.003528744 | 13 | 1 | BeFree |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
Breast Cancer, Familial | 0.000542884 | 2 | 0 | BeFree |
Epithelial ovarian cancer | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
bilateral breast cancer | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Sporadic Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Testicular Germ Cell Tumor | 0.000271442 | 1 | 2 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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