GARS ist ein Gen, das durch das Symbol GARS1 kodiert wird. Im Allgemeinen auch bezeichnet als: Glycine--tRNA ligase; Diadenosine tetraphosphate synthetase; Ap4A synthetase; Glycyl-tRNA synthetase; GlyRS; Glycyl-tRNA synthetase 11. GARS hat eine Masse von 83.17kDa, eine Aminosäurelänge von 739, und ist an folgenden Krankheiten beteiligt: Charcot-Marie-Tooth disease 2D; Neuronopathy, distal hereditary motor, 5A.
Wir bieten 6 antikörper gegen GARS, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:28675565, PubMed:24898252). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis (PubMed:19710017).
Entrez Zusammenfassung
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. Two transcript variants encoding different isoforms have been found for this gene.
Gewebespezifität
Widely expressed, including in brain and spinal cord.
Rolle bei Krankheiten
Charcot-Marie-Tooth disease 2D: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Neuronopathy, distal hereditary motor, 5A: 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.
Sequenzähnlichkeiten
Belongs to the class-II aminoacyl-tRNA synthetase family.
Zellort
Cytoplasm. Mitochondrion. Cell projection > Axon. Secreted. Secreted > Extracellular exosome.
In transfected COS7 cells, not detected in mitochondria, nor in Golgi apparatus (PubMed:17035524). Secreted by motor neuron, possibly through the exosome pathway (By similarity).
