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This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
[中文简述(自动翻译):]  这个基因编码线粒体氨酰tRNA合成,其催化缬氨酸到的tRNA(VAL)为线粒体翻译附件。在该基因导致结合的氧化磷酸化不足-20的突变,并且也与早发性线粒体脑病相关联。这个基因的选择性剪接的结果在多个转录变体。 [由RefSeq的,2014年8月提供]
VARS2基因(以及对应的蛋白质)的细胞分布位置:
VARS2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | 0.24 | 2 | 0 | ORPHANET_UNIPROT |
Lupus Erythematosus, Systemic | 0.004734064 | 2 | 1 | GAD |
Behcet Syndrome | 0.002367032 | 1 | 12 | GAD |
Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Microcephaly | 0.000271442 | 1 | 0 | BeFree |
Muscle hypotonia | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial Encephalomyopathies | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial Diseases | 0.000271442 | 1 | 0 | BeFree |
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