Literature summary for 6.1.1.6 extracted from

McMillan, H.J.; Humphreys, P.; Smith, A.; Schwartzentruber, J.; Chakraborty, P.; Bulman, D.E.; Beaulieu, C.L.; Beaulieu, C.L.; Majewski, J.; Boycott, K.M.; Geraghty, M.T.
Congenital visual impairment and progressive microcephaly due to lysyl-transfer ribonucleic acid (RNA) synthetase (KARS) mutations the expanding phenotype of aminoacyl-transfer RNA synthetase mutations in human disease (2015), J. Child Neurol., 30, 1037-1043 .

Search for more literature for 6.1.1.6

Cloned(Commentary)

Cloned (Comment)	Organism
gene KARS, DNA and amino acid sequence determination and analysis, genotyping	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
E525K	naturally occuring mutation within a highly conserved region of the catalytic domain, the mutation is involved in neurological disorders in infants	Homo sapiens
R438W	naturally occuring mutation within a highly conserved region of the catalytic domain, the mutation is involved in neurological disorders in infants	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
cytoplasm	-	Homo sapiens	5737	-
mitochondrion	-	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q15046	-	-

Synonyms

Synonyms	Comment	Organism
KARS	-	Homo sapiens
LysRS	-	Homo sapiens
Lysyl-transfer RNA synthetase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	congenital visual impairment and progressive microcephaly due to lysyl-transfer RNA synthetase (KARS) mutations, expanding phenotype with severe infantile visual loss, progressive microcephaly, developmental delay, seizures, and abnormal subcortical white matter, overview	Homo sapiens
physiological function	enzyme lysyl-transfer RNA synthetase is a bifunctional aminoacyl-transfer RNA synthetase catalyzing transfer RNA aminoacylation in both, cytoplasm and mitochondria	Homo sapiens

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Release 2023.1 (January 2023)