WARS2

Human protein and coding gene From Wikipedia, the free encyclopedia

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

AliasesWARS2, TrpRS, tryptophanyl tRNA synthetase 2, mitochondrial, NEMMLAS, mtTrpRS, PKDYS3
End119,140,654 bp[1]
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WARS2
Identifiers
AliasesWARS2, TrpRS, tryptophanyl tRNA synthetase 2, mitochondrial, NEMMLAS, mtTrpRS, PKDYS3
External IDsOMIM: 604733; MGI: 1917810; HomoloGene: 5673; GeneCards: WARS2; OMA:WARS2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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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

Further reading

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