AARS Antibody

1. A large sequence divergence of the C-terminal domain (C-Ala) reshaped C-Ala in a way that changed the global architecture of alanyl-tRNA synthetase (AlaRS). This reshaping removed the role of C-Ala in prokaryotes for docking tRNA and instead repurposed it to form a dimer interface presenting a DNA-binding groove. PMID: 27911835
2. Number of missense mutations in AARS expand the clinical spectrum and provide pheno-genotypic correlations in AARS-related neuropathies. PMID: 26032230
3. A novel mutation in alanyl-tRNA synthetase causes a mild myeloneuropathy, a novel phenotype for patients with mutations in one of the tRNA synthetase genes. PMID: 25904691
4. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. PMID: 25817015
5. the pathological consequences of diminished tRNA synthetase editing activity, and thus translational infidelity, are dependent on the cell type and the extent of editing disruption PMID: 25422440
6. in a family with distal hereditary motor neuropathy (dHMN), all 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of (AARS), not found in the 4 unaffected members and control subjects; conclude AARS mutation caused dHMN in a Chinese family; AARS mutations result in not only a CMT phenotype but also a dHMN phenotype PMID: 22573628
7. Methylation-mediated deamination of a CpG dinucleotide gives rise to the recurrent p.Arg329His alanyl-tRNA synthetase mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). PMID: 22009580
8. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. PMID: 21549344
9. cytoplasmic Alanyl-tRNA synthetase may have a role in dominant axonal Charcot-Marie-Tooth disease, as shown by its mutation in a major determinant for binding and aminoacylation PMID: 20045102

Show More

Hide All

HGNC: 20

OMIM: 601065

KEGG: hsa:16

STRING: 9606.ENSP00000261772

UniGene: Hs.315137