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Literature summary for 6.1.1.16 extracted from

  • Coughlin, C.R.; Scharer, G.H.; Friederich, M.W.; Yu, H.C.; Geiger, E.A.; Creadon-Swindell, G.; Collins, A.E.; Vanlander, A.V.; Coster, R.V.; Powell, C.A.; Swanson, M.A.; Minczuk, M.; Van Hove, J.L.; Shaikh, T.H.
    Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder (2015), J. Med. Genet., 52, 532-540 .
    View publication on PubMed
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Protein Variants

Protein Variants Comment Organism
E217del the mutation leads to a severe epileptic encephalopathy and complex movement disorder Homo sapiens
P251L the mutation leads to a severe epileptic encephalopathy and complex movement disorder Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + L-cysteine + tRNACys Homo sapiens
-
 AMP + diphosphate + L-cysteinyl-tRNACys
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9HA77
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + L-cysteine + tRNACys
-
 Homo sapiens AMP + diphosphate + L-cysteinyl-tRNACys
-
 ?

Synonyms

Synonyms Comment Organism
CARS2
-
 Homo sapiens
cysteine-specific aminoacyl-tRNA synthetase
-
 Homo sapiens
Cysteinyl-tRNA synthetase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in isoform CARS2 result in a mitochondrial translational defect leading to mitochondrial epileptic encephalopathy Homo sapiens