靶标:
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:
DARS2 contains conserved residues involved in ATP binding, tRNA binding, and aspartic acid recognition, as well as catalytic site motifs characteristic of amino acid tRNA synthetases. 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). The International Radiation Hybrid Mapping Consortium mapped the DARS2 gene to chromosome 1.