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This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
[中文简述(自动翻译):]  该基因编码的酪氨酸催化到的tRNA(酪氨酸)附件线粒体蛋白质。在这个基因的突变与乳酸性酸中毒和铁粒幼细胞贫血2型(MLASA2)肌病相关联。 [由RefSeq的,2011年1月提供]
YARS2基因(以及对应的蛋白质)的细胞分布位置:
YARS2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA | 0.241357209 | 5 | 0 | BeFree_CTD_human_ORPHANET |
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 | 0.240271442 | 3 | 7 | BeFree_CLINVAR_UNIPROT |
Sideroblastic anemia | 0.001085767 | 4 | 1 | BeFree |
Charcot-Marie-Tooth Disease | 0.000814326 | 3 | 0 | BeFree |
Mitochondrial Myopathies | 0.000814326 | 3 | 0 | BeFree |
Mitochondrial Diseases | 0.000542884 | 2 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Neuropathy | 0.000271442 | 1 | 0 | BeFree |
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