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This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
[中文简述(自动翻译):]  此基因编码参与V(D)J重组和DNA修复的核蛋白。所编码的蛋白质具有单链特异性5‘-3‘外切酶活性;它也显示出对5‘和3‘突出端和发夹核酸内切酶的活性。该蛋白质也起作用的细胞周期的响应于DNA损伤的调节。在这种基因突变可以导致阿萨巴斯卡型重症联合免疫缺陷(SCIDA)和Omenn综合征。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年1月提供]
DCLRE1C基因(以及对应的蛋白质)的细胞分布位置:
DCLRE1C基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Severe combined immunodeficiency with sensitivity to ionizing radiation | 0.440271442 | 1 | 2 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
Omenn Syndrome | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
Severe Combined Immunodeficiency | 0.132072926 | 20 | 1 | BeFree_CLINVAR_GAD_LHGDN |
Histiocytic medullary reticulosis (disorder) | 0.121085767 | 4 | 2 | BeFree_CLINVAR |
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL | 0.12 | 0 | 1 | CLINVAR |
Reticuloendotheliosis, familial, with eosinophilia | 0.12 | 0 | 0 | CTD_human |
Lymphoma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Xenograft Model | 0.003800186 | 14 | 0 | BeFree |
Brain Neoplasms | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of breast | 0.002367032 | 1 | 0 | GAD |
Glioma | 0.002367032 | 1 | 0 | GAD |
Immunologic Deficiency Syndromes | 0.002367032 | 1 | 0 | GAD |
Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
Lymphopenia | 0.002367032 | 1 | 0 | GAD |
Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
Multiple Myeloma | 0.001085767 | 4 | 0 | BeFree |
HIV Infections | 0.000814326 | 3 | 0 | BeFree |
leukemia | 0.000814326 | 3 | 0 | BeFree |
melanoma | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000814326 | 3 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000814326 | 3 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
B-Cell Lymphomas | 0.000542884 | 2 | 0 | BeFree |
Epithelial ovarian cancer | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Amebiasis | 0.000271442 | 1 | 0 | BeFree |
Burkitt Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Amebic colitis | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Lymphoproliferative Disorders | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Microcephaly | 0.000271442 | 1 | 0 | BeFree |
HIV Encephalopathy | 0.000271442 | 1 | 0 | BeFree |
HIV encephalitis | 0.000271442 | 1 | 0 | BeFree |
Stage IV Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Combined immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Acral pseudolymphomatous angiokeratoma of children (APACHE) | 0.000271442 | 1 | 0 | BeFree |
Thymic Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Tumor Angiogenesis | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Juvenile rheumatoid arthritis | 0.000271442 | 1 | 0 | BeFree |
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