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Literature summary for 2.3.1.181 extracted from

  • Bernardinelli, E.; Costa, R.; Scantamburlo, G.; To, J.; Morabito, R.; Nofziger, C.; Doerrier, C.; Krumschnabel, G.; Paulmichl, M.; Dossena, S.
    Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death (2017), PLoS ONE, 12, e0179591 .
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining
Homo sapiens A6NK58
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Synonyms

Synonyms Comment Organism
lipoyl(octanoyl) transferase 2
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Homo sapiens
LIPT2
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Homo sapiens

General Information

General Information Comment Organism
malfunction first 31 amino acids of the N-terminus of LIPT2 represent a mitochondrial targeting sequence and inhibition of the transit of LIPT2 to the mitochondrion results in apoptotic cell death associated with activation of the apoptotic volume decrease current in normotonic conditions, as well as over-activation of the swelling-activated chloride current, mitochondrial membrane potential collapse, caspase-3 cleavage and nuclear DNA fragmentation Homo sapiens
metabolism the enzyme is involved in the post-translational modification of key energy metabolism enzymes in humans Homo sapiens