AARS2 gene

alanyl-tRNA synthetase 2, mitochondrial

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Dec 2011]

From UniProt:

Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 8
  • Leukoencephalopathy, progressive, with ovarian failure

From UniProt:

Combined oxidative phosphorylation deficiency 8 (COXPD8): A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. [MIM:614096]

Leukoencephalopathy, progressive, with ovarian failure (LKENP): An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure. [MIM:615889]

Cytogenetic Location: 6p21.1, which is the short (p) arm of chromosome 6 at position 21.1

Molecular Location: base pairs 44,297,850 to 44,313,358 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.1, which is the short (p) arm of chromosome 6 at position 21.1
  • AARSL
  • COXPD8
  • LKENP
  • MT-ALARS
  • MTALARS