Alanyl-tRNA Synthetase 2, Mitochondrial (Putative) Proteine (AARS2)

The protein encoded by AARS2 belongs to the class-II aminoacyl-tRNA synthetase family. Zusätzlich bieten wir Ihnen AARS2 Antikörper (48) und AARS2 Kits (1) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
AARS2 57505 Q5JTZ9
Ratte AARS2 AARS2 301254 D3ZX08
AARS2 224805 Q14CH7
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Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 66 Days
10.536,00 €
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Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 66 Days
10.536,00 €
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HOST_HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen 6 bis 8 Tage
748,00 €
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AARS2 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human ,
,
Mouse (Murine)

Weitere Proteine zu Alanyl-tRNA Synthetase 2, Mitochondrial (Putative) (AARS2) Interaktionspartnern

Human Alanyl-tRNA Synthetase 2, Mitochondrial (Putative) (AARS2) Interaktionspartner

  1. Mutations in AARS2 in a Series of CSF1R (zeige CSF1R Proteine)-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

  2. 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.

  3. we describe a Japanese woman with novel compound heterozygous mutations in AARS2, the first report of leukodystrophy caused by AARS2 mutations in Asia.

  4. 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.

  5. Mutations in AARS2 found in lethal mitochondrial myopathy

AARS2 Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit AARS2

  • alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2)
  • alanyl-tRNA synthetase 2, mitochondrial (AARS2)
  • alanyl-tRNA synthetase 2, mitochondrial (Aars2)
  • alanyl-tRNA synthetase 2, mitochondrial (putative) (Aars2)
  • Aarsl Protein
  • AlaRS Protein
  • COXPD8 Protein
  • Gm89 Protein
  • MT-ALARS Protein
  • MTALARS Protein

Bezeichner auf Proteinebene für AARS2

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

GENE ID SPEZIES
421436 Gallus gallus
462733 Pan troglodytes
702626 Macaca mulatta
786099 Bos taurus
100013354 Monodelphis domestica
100067843 Equus caballus
100155115 Sus scrofa
100447064 Pongo abelii
57505 Homo sapiens
474920 Canis lupus familiaris
301254 Rattus norvegicus
224805 Mus musculus
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