Literature summary for 6.1.1.9 extracted from

Rorbach, J.; Yusoff, A.A.; Tuppen, H.; Abg-Kamaludin, D.P.; Chrzanowska-Lightowlers, Z.M.; Taylor, R.W.; Turnbull, D.M.; McFarland, R.; Lightowlers, R.N.
Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation (2008), Nucleic Acids Res., 36, 3065-3074.

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Application

Application	Comment	Organism
medicine	a C25U point mutation in the MTTV gene, gene encoding tRNAVal, is associated with a metabolic disorder resulting in the neonatal deaths of numerous siblings. In primary myoblasts and transmitochondrial cybrids established from the proband and offspring, the steady-state levels of the mutated mt-tRNAVal are greater than in the biopsy material, but are still lower than in control myoblasts. Decrease in steady-state mt-tRNAVal observed cell lines is caused by a rapid degradation of the deacylated form of the abnormal mt-tRNAVal. By both establishing the identity of the human mitochondrial valyltRNA synthetase then inducing its overexpression in transmitochondrial cell lines, steady-state levels of the mutated mt-tRNAVal can be partially restored	Homo sapiens

Localization

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
myoblast cell line	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
mitochondrial valyl tRNA synthetase	-	Homo sapiens
MTTV	-	Homo sapiens

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Release 2023.1 (January 2023)