Gene: AARS2

Alternate names for this Gene: AARSL|COXPD8|LKENP|MT-ALARS|MTALARS

Gene Summary: The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

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

Type of Gene: protein-coding

Gene: TMEM151B

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs138119149 in AARS2;TMEM151B gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 PMID 27839525 2017 Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 25705216 2015 Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

PMID 29440775 2018 Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

rs138119149 in AARS2;TMEM151B gene and Dysmorphic features PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 24808023 2014 Novel (ovario) leukodystrophy related to AARS2 mutations.

rs543267101 in AARS2;TMEM151B gene and LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE PMID 24808023 2014 Novel (ovario) leukodystrophy related to AARS2 mutations.

rs138119149 in AARS2;TMEM151B gene and Multiple congenital anomalies PMID 24808023 2014 Novel (ovario) leukodystrophy related to AARS2 mutations.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.