WARS2 Antibody

1. An alternative conformation of human TrpRS suggests a role of zinc in activating non-enzymatic function. PMID: 28910573
2. The data demonstrate a pro-angiogenic function for Wars2 both within and outside the heart. PMID: 27389904
3. This confidently implicates that mutations in WARS2 cause mitochondrial disease with a broad spectrum of clinical presentation. PMID: 28905505
4. we found a compound heterozygous genotype of the mitochondrial tryptophanyl-tRNA synthetase (WARS2) gene, comprising a nonsense mutation (c.325delA, p.Ser109Alafs*15), which very likely entails nonsense-mediated mRNA decay and a missense mutation PMID: 28236339
5. Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, microcephaly, short stature, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities PMID: 28650581
6. first genome-wide scan for selection in Inuit from Greenland. A region, with a deeply divergent haplotype that is closely related to the sequence in the Denisovan genome contains two genes, WARS2 and TBX15. our study suggests a complex multi-factorial regulation of TBX15 and WARS2. We show that the introgressed region is associated with regional changes in methylation and expression levels PMID: 28007980
7. tandem promoters provide a dual system to regulate expression and alternative splicing of human TrpRS in vivo PMID: 14757836
8. Mutations located at the appended beta1-beta2 hairpin and the AIDQ sequence of human TrpRS switch this enzyme to a tRNA-dependent mode in the tryptophan activation step. PMID: 17726052

Show More

Hide All

HGNC: 12730

OMIM: 604733

KEGG: hsa:10352

STRING: 9606.ENSP00000235521

UniGene: Hs.523506