基因名:
DARS2
产品别名:
ASPRS; LBSL; MT-ASPRS; mtAspRS; DARS2; aspartyl-tRNA synthetase 2, mitochondrial; aspartyl-tRNA synthetase 2, mitochondrial; aspartate--tRNA ligase, mitochondrial; aspartate tRNA ligase 2, mitochondrial; aspartyl-tRNA synthetase, mitochondrial; 天冬氨酰tRNA合成酶2(DARS2); 天门冬氨酰tRNA连接酶2;
背景信息:
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]