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The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]
[中文简述(自动翻译):]  由该基因编码的蛋白质是T细胞受体/ CD3复合物(TCR / CD3复合)的一部分,参与T细胞发育和信号转导。所编码的膜蛋白代表的CD3复合物的增量亚基,并与其他四个CD3亚基一起结合任一的TCRα/β或TCR伽玛/三角形以形成T细胞表面上的TCR / CD3复合。在这个基因的缺陷是严重的联合免疫缺陷常染色体隐性遗传的T细胞阴性??/ B细胞阳性/ NK细胞阳性(SCIDBNK)的一个原因。已发现该基因编码不同亚型的两个转录变异体。其它变型也是可能存在,但它们的转录物的全长性质尚未被定义。 [由RefSeq的,2009年2月提供]
CD3D基因(以及对应的蛋白质)的细胞分布位置:
CD3D基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Severe Combined Immunodeficiency | 0.123810118 | 6 | 0 | BeFree_CTD_human_LHGDN |
Biliary cirrhosis | 0.12 | 1 | 0 | CTD_human |
Liver diseases | 0.12 | 1 | 0 | CTD_human |
Dermatitis, Allergic Contact | 0.12 | 1 | 0 | CTD_human |
Neurotoxicity Syndromes | 0.12 | 1 | 0 | CTD_human |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative | 0.12 | 0 | 0 | CTD_human |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive | 0.12 | 0 | 0 | CTD_human |
IMMUNODEFICIENCY 19 | 0.12 | 0 | 3 | CLINVAR |
Celiac Disease | 0.002367032 | 1 | 0 | GAD |
Hay fever | 0.002367032 | 1 | 0 | GAD |
Aplastic Anemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Lymphopenia | 0.000271442 | 1 | 0 | BeFree |
Paraganglioma | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Lymphoid depletion | 0.000271442 | 1 | 0 | BeFree |
Inflammatory cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
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