Gene Symbol | DARS2 |
Entrez Gene ID | 55157 |
Full Name | aspartyl-tRNA synthetase 2, mitochondrial |
Synonyms | ASPRS,LBSL,MT-ASPRS |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3) |