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Human GARS Recombinant Protein (RPPB1657)

SKU:
RPPB1657
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
P41250
Research Area:
Enzymes
€309
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Description

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Product Name:Human GARS Recombinant Protein
Product Code:RPPB1657
Size:10µg
Species:Human
Target:GARS
Synonyms:Glycine--tRNA ligase, EC 6.1.1.14, Diadenosine tetraphosphate synthetase, AP-4-A synthetase, Glycyl-tRNA synthetase, GlyRS, GARS, HMN5, CMT2D, DSMAV, SMAD1.
Source:Sf9 Insect cells
Physical Appearance:Sterile Filtered clear solution.
Formulation:GARS is supplied in 20mM HEPES buffer pH-7.6, 250mM NaCl and 20% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. Avoid multiple freeze-thaw cycles.
Purity:Greater than 80.0% as determined by SDS-PAGE.

GARS is an (alpha)2 dimer which is a member of the class II family of tRNA synthetases. GARS is a glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases which charge tRNAs with their cognate amino acids. GARS catalyzes the attachment of glycine to tRNA(Gly). In addition, GARS is able to produce diadenosine tetraphosphate (Ap4A), which is a universal pleiotropic signaling molecule required for cell regulation pathways, by direct condensation of two ATPs. GARS has been demonstrated to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis.

GARS Human Recombinant produced in SF9 is a glycosylated, polypeptide chain having a calculated molecular mass of 78,902 Dalton. GARS is expressed with a -10xHis tag at N-terminus and purified by proprietary chromatographic techniques.

UniProt Protein Function:GARS: Catalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Defects in GARS are the cause of Charcot-Marie-Tooth disease type 2D (CMT2D). CMT2D is a form of Charcot- Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2D is characterized by a more severe phenotype in the upper extremities (severe weakness and atrophy, absence of tendon reflexes) than in the lower limbs. CMT2D inheritance is autosomal dominant. Defects in GARS are a cause of distal hereditary motor neuronopathy type 5A (HMN5A); also known as distal hereditary motor neuropathy type V (DSMAV). A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Belongs to the class-II aminoacyl-tRNA synthetase family.
UniProt Protein Details:

Protein type:Mitochondrial; EC 6.1.1.14; Ligase; Translation

Chromosomal Location of Human Ortholog: 7p15

Cellular Component: nucleoplasm; mitochondrial matrix; cytoplasm; cytosol; secretory granule

Molecular Function:protein dimerization activity; glycine-tRNA ligase activity; ATP binding

Biological Process: tRNA aminoacylation for protein translation; glycyl-tRNA aminoacylation; gene expression; diadenosine tetraphosphate biosynthetic process

Disease: Neuronopathy, Distal Hereditary Motor, Type Va; Charcot-marie-tooth Disease, Axonal, Type 2d

NCBI Summary:This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. [provided by RefSeq, Jul 2008]
UniProt Code:P41250
NCBI GenInfo Identifier:313104283
NCBI Gene ID:2617
NCBI Accession:P41250.3
UniProt Secondary Accession:P41250,Q969Y1, B3KQA2, B4DIA0,
UniProt Related Accession:P41250
Molecular Weight:739
NCBI Full Name:Glycine--tRNA ligase
NCBI Synonym Full Names:glycyl-tRNA synthetase
NCBI Official Symbol:GARS��
NCBI Official Synonym Symbols:HMN5; CMT2D; DSMAV; GlyRS; SMAD1��
NCBI Protein Information:glycine--tRNA ligase; AP-4-A synthetase; glycine tRNA ligase; Charcot-Marie-Tooth neuropathy 2D; diadenosine tetraphosphate synthetase; Charcot-Marie-Tooth neuropathy, neuronal type, D
UniProt Protein Name:Glycine--tRNA ligase
UniProt Synonym Protein Names:Diadenosine tetraphosphate synthetase; AP-4-A synthetase; Glycyl-tRNA synthetase; GlyRS
Protein Family:Glycine--tRNA ligase
UniProt Gene Name:GARS��
UniProt Entry Name:SYG_HUMAN

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