catalog number :
MBS427956
products full name :
AARS2 Immunizing Peptide
products short name :
AARS2
products name syn :
AARS2; alanyl-tRNA synthetase 2, mitochondrial (putative); AARSL; COXPD8; KIAA1270; MT-ALARS; MTALARS; bA444E17.1; OTTHUMP00000016528; alaRS; alanine tRNA ligase 2, mitochondrial (putative); alanine--tRNA ligase; alanyl-tRNA synthetase like; alanyl-tRNA s
other names :
alanine--tRNA ligase, mitochondrial; Alanine--tRNA ligase, mitochondrial; alanine--tRNA ligase, mitochondrial; alanyl-tRNA synthetase 2, mitochondrial; Alanyl-tRNA synthetase
products gene name :
AARS2
other gene names :
AARS2; AARS2; AARSL; LKENP; COXPD8; MTALARS; MT-ALARS; AlaRS
uniprot entry name :
SYAM_HUMAN
sequence :
C-QHRARQAEPVQK
form :
100ug of dried peptide
storage stability :
Shipped at ambient temperature, store at -20 degree C
ncbi acc num :
NP_065796.1
ncbi gb acc num :
NM_020745.3
ncbi mol weight :
107,340 Da
ncbi pathways :
Aminoacyl-tRNA Biosynthesis Pathway (83030); Aminoacyl-tRNA Biosynthesis Pathway (424); Aminoacyl-tRNA Biosynthesis, Eukaryotes Pathway (413439); Aminoacyl-tRNA Biosynthesis, Eukaryotes Pathway (468360); Gene Expression Pathway (1269649); Mitochondrial TRNA Aminoacylation Pathway (1269711); TRNA Aminoacylation Pathway (1269709)
ncbi summary :
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. [provided by RefSeq, Dec 2011]
uniprot summary :
AARSL: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Defects in AARS2 are the cause of combined oxidative phosphorylation deficiency type 8 (COXPD8). A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. Belongs to the class-II aminoacyl-tRNA synthetase family. Protein type: EC 6.1.1.7; Translation; Ligase. Chromosomal Location of Human Ortholog: 6p21.1. Cellular Component: cytosol; mitochondrion. Molecular Function: alanine-tRNA ligase activity; amino acid binding; ATP binding; metal ion binding; tRNA binding. Biological Process: mitochondrial respiratory chain complex assembly; tRNA modification. Disease: Combined Oxidative Phosphorylation Deficiency 8; Leukoencephalopathy, Progressive, With Ovarian Failure