AARS2

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Alanyl-tRNA synthetase 2, mitochondrial
Identifiers
Symbols AARS2 ; AARSL; COXPD8; MT-ALARS; MTALARS
External IDs OMIM612035 MGI2681839 HomoloGene56897 GeneCards: AARS2 Gene
EC number 6.1.1.7
Orthologs
Species Human Mouse
Entrez 57505 224805
Ensembl ENSG00000124608 ENSMUSG00000023938
UniProt Q5JTZ9 Q14CH7
RefSeq (mRNA) NM_020745 NM_198608
RefSeq (protein) NP_065796 NP_941010
Location (UCSC) Chr 6:
44.27 – 44.28 Mb
Chr 17:
45.51 – 45.52 Mb
PubMed search [1] [2]

Alanyl—tRNA synthetase, mitochondrial, also known as alanine—tRNA ligase (AlaRS) or alanyl—tRNA synthetase 2 (AARS2), is an enzyme that in humans is encoded by the AARS2 gene.[1][2]

Clinical relevance[edit]

Mutations in the AARS2 gene result in infantile mitochondrial cardiomyopathies.[3]

References[edit]

  1. ^ "Entrez Gene: alanyl-tRNA synthetase 2". 
  2. ^ Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M (March 2005). "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS". Biochemistry 44 (12): 4805–16. doi:10.1021/bi047527z. PMID 15779907. 
  3. ^ G?tz A, Tyynismaa H, Euro L, Ellonen P, Hy?tyl?inen T, Ojala T, H?m?l?inen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A (May 2011). "Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy". Am J Hum Genet 88 (5): 635–42. doi:10.1016/j.ajhg.2011.04.006. PMID 21549344. 

Further reading[edit]

External links[edit]