Gene: DARS2

Alternate names for this Gene: ASPRS|LBSL|MT-ASPRS|mtAspRS

Gene 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).

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.1

Description of this Gene: aspartyl-tRNA synthetase 2, mitochondrial

Type of Gene: protein-coding

rs3791020 in DARS2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

rs121918205 in DARS2 gene and Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation PMID 17384640 2007 Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

PMID 24407472 2014 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings.

PMID 23065766 2012 Early-onset LBSL: how severe does it get?

PMID 23652419 2013 Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.

PMID 19592391 2010 DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

PMID 24005482 2014 A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings.

PMID 22843165 2012 Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis.