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Target intelligence / Profile preview
Lysyl-tRNA Synthetase 1 (KARS1)
- Target
- KARS1
- Molecular classification
- Enzyme, Aminoacyl-tRNA synthetase, Class II aminoacyl-tRNA synthetase
01
Overview
Lysyl-tRNA Synthetase 1 (KARS1) is an enzyme that catalyzes the ligation of lysine to its corresponding tRNA, a crucial step in protein synthesis. It also functions as a signaling molecule, activating monocytes and macrophages and is involved in Ap4A synthesis. Mutations in KARS1 are associated with several neurological disorders, including Charcot-Marie-Tooth disease and various forms of leukoencephalopathy.
- Other names
- KARSKRSKARS2CMTRIBDEAPLEDFNB89LEPID[5]
02
Mechanism of action
Catalyzes the attachment of lysine to its cognate tRNA (tRNALys)
03
Biological functions
TranslationtRNA aminoacylationImmune signalingAp4A synthesis
04
Disease associations
Charcot-Marie-Tooth diseaseCongenital deafnessEarly-onset progressive leukoencephalopathyCentral nervous system calcificationDeafness–visual impairment syndromeProgressive infantile-onset leukoencephalopathyNeurodevelopmental disorders
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