Gene: EARS2
Alternate names for this Gene: COXPD12|MSE1|gluRS|mtGlnRS
Gene Summary: This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 16
Location in Chromosome : 16p12.2
Description of this Gene: glutamyl-tRNA synthetase 2, mitochondrial
Type of Gene: protein-coding
rs141129877 in
EARS2 gene and
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
PMID 22492562 2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
PMID 23008233 2013 Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PMID 26780086 2016 EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
rs201842633 in
EARS2 gene and
Muscle hypotonia
PMID 26619324 2016 Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.
PMID 23008233 2013 Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
PMID 26780086 2016 EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
PMID 22492562 2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PMID 25854774 2015 Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.