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The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
[中文简述(自动翻译):]  由该基因编码的蛋白质是一个家族的RIM结合蛋白中的一员。轮辋是调节神经递质的释放活动区域蛋白。该基因已经发现融合于通过基因重排的受体型酪氨酸激酶基因RET由于易位t(10; 12)(Q11; P13)在甲状腺乳头状癌。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年7月提供]
ERC1基因(以及对应的蛋白质)的细胞分布位置:
ERC1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Papillary thyroid carcinoma | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Leukemia, Myelocytic, Acute | 0.00272435 | 1 | 0 | LHGDN |
Thyroid Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Apraxia, Developmental Verbal | 0.000271442 | 1 | 0 | BeFree |
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