KARS1 Chromosome 16
Lysyl-tRNA synthetase 1
Upload your DNA to see your personal genotypes for variants in KARS1.
What This Gene Does
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]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000065427
Associated Conditions (33)
Leukoencephalopathy
progressive
infantile-onset
with or without deafness
Hearing impairment
Global developmental delay
Autosomal recessive nonsyndromic hearing loss 89
Leukodystrophy
Sensorineural hearing loss disorder
Charcot-Marie-Tooth disease recessive intermediate B
KARS1-related disorder
Nonsyndromic genetic hearing loss
Abnormal cerebral white matter morphology
Optic neuropathy
Abnormal pyramidal sign
Congenital sensorineural hearing impairment
Progressive cerebellar ataxia
Deafness
congenital
and adult-onset progressive leukoencephalopathy
+13 more conditions
Key Variants
RS1156833108
Conflicting classifications of pathogenicity
Leukoencephalopathy, progressive, infantile-onset
Health Risk
RS117188693
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS1415687857
Conflicting classifications of pathogenicity
Global developmental delay, Autosomal recessive nonsyndromic hearing loss 89, Leukodystrophy
Health Risk
RS144274136
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS146127444
Conflicting classifications of pathogenicity
Health Risk
RS149772470
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease recessive intermediate B, Hearing impairment, KARS1-related disorder
Health Risk
RS2507558889
Conflicting classifications of pathogenicity
Leukoencephalopathy, progressive, infantile-onset
Health Risk
RS369238198
Conflicting classifications of pathogenicity
Leukoencephalopathy, progressive, infantile-onset
Health Risk
RS374496494
Conflicting classifications of pathogenicity
Health Risk
RS375699349
Conflicting classifications of pathogenicity
Leukoencephalopathy, progressive, infantile-onset
Health Risk
RS377697859
Conflicting classifications of pathogenicity
Health Risk
RS397514745
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 89, Nonsyndromic genetic hearing loss, Leukoencephalopathy
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2507056779 | Health Risk | Pathogenic/Likely pathogenic | KARS1-related disorder, Leukoencephalopathy, progressive |
| RS746483110 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS761527468 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy, progressive, infantile-onset |
| RS774447299 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Leukoencephalopathy, progressive |