KARS1 lysyl-tRNA synthetase 1
Gene ID: 3735, updated on 7-Apr-2024Gene type: protein coding
Also known as: KRS; KARS; KARS2; LEPID; CMTRIB; DEAPLE; DFNB89
- See all available tests in GTR for this gene
- Go to complete Gene record for KARS1
- Go to Variation Viewer for KARS1 variants
Summary
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive nonsyndromic hearing loss 89 | See labs |
| Charcot-Marie-Tooth disease recessive intermediate B | See labs |
| Deafness, congenital, and adult-onset progressive leukoencephalopathy | See labs |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available | |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | See labs |
Genomic context
- Location:
- 16q23.1
- Sequence:
- Chromosome: 16; NC_000016.10 (75627724..75647665, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KARS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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