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The protein encoded by AARS2 belongs to the class-II aminoacyl-tRNA synthetase family.
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Missense variants in the AARS2 gene are the likely cause of the retinopathy and optic atrophy in this patient. This finding expands the phenotypic spectrum of the AARS2 gene.
Mutations in AARS2 in a Series of CSF1R (zeige CSF1R ELISA Kits)-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
This paper documented a new, nonsense AARS2 gene mutation (c.578T>G, p.Leu193*) and a known missense mutation (c.595C>T, p.Arg199Cys) associated with leukoencephalopathy in a male patient.
we describe a Japanese woman with novel compound heterozygous mutations in AARS2, the first report of leukodystrophy caused by AARS2 mutations in Asia.
A new phenotype caused by AARS2 mutations is characterized by leukoencephalopathy and ovarian failure in female patients, indicating that the phenotypic spectrum associated with AARS2 variants is much wider than previously reported.
Mutations in AARS2 found in lethal mitochondrial myopathy
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8.
probable alanyl-tRNA synthetase, mitochondrial
, alanyl-tRNA synthetase like
, alanyl-tRNA synthetase 2, mitochondrial (putative)
, alanyl-tRNA synthetase, mitochondrial
, alanine tRNA ligase 2, mitochondrial (putative)
, alanine--tRNA ligase, mitochondrial