WARS2
Identifiers
AliasesWARS2, TrpRS, tryptophanyl tRNA synthetase 2, mitochondrial, NEMMLAS, mtTrpRS, PKDYS3
External IDsOMIM: 604733 MGI: 1917810 HomoloGene: 5673 GeneCards: WARS2
Orthologs
SpeciesHumanMouse
Entrez

10352

70560

Ensembl

ENSG00000116874

ENSMUSG00000004233

UniProt

Q9UGM6

Q9CYK1

RefSeq (mRNA)

NM_027462

RefSeq (protein)

NP_081738

Location (UCSC)Chr 1: 119.03 – 119.14 MbChr 3: 99.05 – 99.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tryptophanyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the WARS2 gene.[5][6][7]

Function

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described.[7] According to recent research, mutations of the mitochondrial form of the enzyme are believed to express two different neurological disorders: A subtype of autosomal recessive intellectual disability and a syndrome of severe infantile‐onset leukoencephalopathy.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000116874 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004233 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Martinez-Dominguez MT, Justesen J, Kruse TA, Hansen LL (Mar 1999). "Assignment of the human mitochondrial tryptophanyl-tRNA synthetase (WARS2) to 1p13.3-->p13.1 by radiation hybrid mapping". Cytogenetics and Cell Genetics. 83 (3–4): 249–250. doi:10.1159/000015196. PMID 10072595. S2CID 28931531.
  6. Jorgensen R, Søgaard TM, Rossing AB, Martensen PM, Justesen J (June 2000). "Identification and characterization of human mitochondrial tryptophanyl-tRNA synthetase". The Journal of Biological Chemistry. 275 (22): 16820–16826. doi:10.1074/jbc.275.22.16820. PMID 10828066.
  7. 1 2 "Entrez Gene: WARS2 tryptophanyl tRNA synthetase 2, mitochondrial".
  8. Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, et al. (March 2018). "Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism". Clinical Genetics. 93 (3): 712–718. doi:10.1111/cge.13172. PMC 5828974. PMID 29120065.

Further reading

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