RecName: Full=Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransf - Protein

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Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death. [PLoS One. 2017]
Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death.
Bernardinelli E, Costa R, Scantamburlo G, To J, Morabito R, Nofziger C, Doerrier C, Krumschnabel G, Paulmichl M, Dossena S. PLoS One. 2017; 12(6):e0179591. Epub 2017 Jun 19.
Lipoic acid biosynthesis defects. [J Inherit Metab Dis. 2014]
Lipoic acid biosynthesis defects.
Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W. J Inherit Metab Dis. 2014 Jul; 37(4):553-63. Epub 2014 Apr 29.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. [Am J Hum Genet. 2017]
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, et al. Am J Hum Genet. 2017 Aug 3; 101(2):283-290. Epub 2017 Jul 27.

RefSeq genomic sequence
See the genomic reference sequence for the LIPT2 gene (NG_051333.1).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the LIPT2 gene.

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A6NK58 [Domain Mapping of Disease Mut...]
A6NK58
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT...
RecName: Full=Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial; AltName: Full=Lipoate-protein ligase B; AltName: Full=Lipoyl/octanoyl transferase; AltName: Full=Lipoyltransferase 2; AltName: Full=Octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase; Flags: Precursor
gi|187609600|sp|A6NK58.1|LIPT2_HUMA

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