KARS1 wt Allele

Preferred Label : KARS1 wt Allele;

NCIt synonyms : KRS; LEPID; Lysyl-tRNA Synthetase Gene; Deafness, Autosomal Recessive 89 Gene; Lysyl-tRNA Synthetase 1 wt Allele; DFNB89; KIAA0070; KARS; KARS2; CMTRIB; Lysine tRNA Ligase Gene; DEAPLE;

NCIt definition : Human KARS1 wild-type allele is located in the vicinity of 16q23.1 and is approximately 21 kb in length. This allele, which encodes lysine-tRNA ligase protein, plays a role in the synthesis of lysyl-tRNA. Mutations in the gene are associated with infantile-onset progressive leukoencephalopathy with or without deafness (LEPID), recessive intermediate Charcot-Marie-Tooth disease type B, autosomal recessive deafness 89 and congenital deafness with adult-onset progressive leukoencephalopathy (DEAPLE).;

GenBank Accession Number : AF285758;

Details

Origin ID

C200658;

OMIM relation
- Lysyl-trna synthetase 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q23.1 [NCIt concept]
gene_is_element_in_pathway
- Aminoacyl-tRNA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Processing [NCIt concept]
- Translation Process [NCIt concept]

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