Human GARS antibody
GARS, also known as glycyl-tRNA synthetase, is one of the aminoacyl-tRNA synthetase that charge tRNAs with their cognate amino acids. Defects in the gene encoding GlyRS is the cause of Charcot-Marie-Tooth disease type 2D (CMT2D), which is an autosomal dominant inherited disease characterized by severe weakness, atrophy and absence of deep tendon reflexes in the upper extremities. Defects in the GlyRS gene is also the cause of distal hereditary muscular neuropathy type V (HMN5), a disease similar to CMT2D, though the distal sensory involvement is less severe in HMN5 patients.
Product Specifications
Product Name Alternative
Glycyl-tRNA synthetase, CMT2D, DSMAV, GlyRS, HMN5, SMAD1
Host
Mouse
Antigen Species
Human
Reactivity
Human
Immunogen
Recombinant human GARS (43-289aa) purified from E. coli
Clonality
Monoclonal
Isotype
IgG1 κ
Clone
AT4E10
Conjugation
Unconjugated
Applications
ELISA, WB, ICC/IF
Purification Method
By protein-A affinity chromatography
Concentration
1 mg/mL (determined by BCA assay)
Additionnal Information
References & Citations
Xie. W. (2007) Proc Natl Acad Sci U S A. 104: 9976-9981.; ; Antonellis. A. (2003) AM J Hum Genet 72: 1293-1299.
Storage Conditions
Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.
Formulation
Liquid in. Phosphate-Buffered Saline (pH 7.4) with 0.02% Sodium Azide, 10% glycerol
Applications Notes
Scientific Category
Epigenomics (Transcription & Translation)
NCBI Accession Number
NP_002038
Uniprot Accession Number
P41250
WB Description
IF Description
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