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Literature summary for 2.3.1.181 extracted from

  • Habarou, F.; Hamel, Y.; Haack, T.; Feichtinger, R.; Lebigot, E.; Marquardt, I.; Busiah, K.; Laroche, C.; Madrange, M.; Grisel, C.; Pontoizeau, C.; Eisermann, M.; Boutron, A.; Chrétien, D.; Chadefaux-Vekemans, B.; Barouki, R.; Bole-Feysot, C.; Nitschke, P
    Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy (2017), Am. J. Hum. Genet., 101, 283-290 .
    View publication on PubMedView publication on EuropePMC
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Organism

Organism UniProt Comment Textmining
Homo sapiens A6NK58
-
-

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 biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy Homo sapiens
metabolism LIPT2 is required in intramitochondrial lipoate synthesis Homo sapiens