🧬 基因注释：VARS2
📝 官方信息
官方名称：valyl-tRNA synthetase 2, mitochondrial
功能摘要：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].
🏥 关联疾病
该基因暂无关联疾病记录