LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs

Stable Identifier
R-HSA-6792572
Type
Reaction
Species
Homo sapiens
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Lipoate is an essential cofactor for two enzymes from energy metabolism (alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase) and three from amino acid metabolism (branched-chain ketoacid dehydrogenase, 2-oxoadipate dehydrogenase, and the glycine cleavage system). Lipoate synthesis in mitochondria requires three steps. In the third step, mitochondrial lipoyltransferase 1 (LIPT1) catalyses the transfer of a lipoyl group from lipoyl-K107-GCSH to lysine residue(s) of lipoate-dependent enzymes (Fujiwara et al. 1999). Defects in LIPT1 reduce lipoylation of pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase, causing a cofactor disorder of mitochondrial energy metabolism (Soreze et al. 2013, Tort et al. 2014).

Literature References
PubMed ID Title Journal Year
24256811 Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Tort, F, Ferrer-Cortès, X, Thió, M, Navarro-Sastre, A, Matalonga, L, Quintana, E, Bujan, N, Arias, A, Garcia-Villoria, J, Acquaviva, C, Vianey-Saban, C, Artuch, R, Garcia-Cazorla, A, Briones, P, Ribes, A

Hum. Mol. Genet. 2014
10103005 Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene

Fujiwara, K, Suzuki, M, Okumachi, Y, Okamura-Ikeda, K, Fujiwara, T, Takahashi, E, Motokawa, Y

Eur. J. Biochem. 1999
24341803 Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Soreze, Y, Boutron, A, Habarou, F, Barnerias, C, Nonnenmacher, L, Delpech, H, Mamoune, A, Chrétien, D, Hubert, L, Bole-Feysot, C, Nitschké, P, Correia, I, Sardet, C, Boddaert, N, Hamel, Y, Delahodde, A, Ottolenghi, C, de Lonlay, P

Orphanet J Rare Dis 2013
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Catalyst Activity
Title
transferase activity, transferring acyl groups of LIPT1 [mitochondrial matrix]
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Orthologous Events
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