Alanyl-tRNA Synthetase 2, Mitochondrial (Putative) (AARS2) ELISA Kits

The protein encoded by AARS2 belongs to the class-II aminoacyl-tRNA synthetase family. Zusätzlich bieten wir Ihnen AARS2 Antikörper (48) und AARS2 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
AARS2 57505 Q5JTZ9
Anti-Ratte AARS2 AARS2 301254 D3ZX08
Anti-Maus AARS2 AARS2 224805 Q14CH7
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Katalog Nr. Reaktivität Sensitivität Bereich Bilder Menge Anbieter Lieferzeit Preis Details
Human
  96 Tests Anmelden zum Anzeigen 13 bis 16 Tage
$910.56
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Weitere ELISA Kits für AARS2 Interaktionspartner

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

  1. 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.

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

  3. 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.

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

  5. 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.

  6. Mutations in AARS2 found in lethal mitochondrial myopathy

AARS2 Antigen-Profil

Beschreibung des Gens

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

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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