KARS1
Description
The KARS1 (lysyl-tRNA synthetase 1) is a protein-coding gene located on chromosome 16.
KARS1 catalyzes the attachment of the amino acid lysine to its cognate tRNA in a two-step reaction. First, lysine is activated by ATP to form lysine-AMP. Then, lysine-AMP is transferred to the acceptor end of the tRNA. KARS1 can also be secreted and act as a signaling molecule, inducing an immune response by activating monocytes and macrophages. Additionally, KARS1 catalyzes the synthesis of diadenosine tetraphosphate (Ap4A), which disrupts the complex between HINT1 and MITF, leading to the activation of MITF transcriptional activity.
KARS1 is also known as CMTRIB, DEAPLE, DFNB89, KARS, KARS2, KRS, LEPID.
Associated Diseases
- Deafness, congenital, and adult-onset progressive leukoencephalopathy
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- Charcot-marie-tooth disease, recessive intermediate B
- Deafness, autosomal recessive 89
- Leukoencephalopathy, progressive, infantile-onset, with or without deafness
