RecName: Full=Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, m - Protein

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Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome-9. [Mol Genet Genomic Med. 2022]
Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome-9.
Chen YM, Chen W, Xu Y, Lu CS, Zhu MM, Sun RY, Wang Y, Chen Y, Shi J, Wang D. Mol Genet Genomic Med. 2022 Sep; 10(9):e2010. Epub 2022 Jun 28.
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder. [Mol Genet Metab. 2019]
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, et al. Mol Genet Metab. 2019 Jan; 126(1):43-52. Epub 2018 Nov 16.
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. [Biochem Biophys Res Commun. 2018]
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Maalej M, Tej A, Bouguila J, Tilouche S, Majdoub S, Khabou B, Tabbebi M, Felhi R, Ammar M, Mkaouar-Rebai E, et al. Biochem Biophys Res Commun. 2018 Jan 8; 495(2):1730-1737. Epub 2017 Dec 5.

RefSeq genomic sequence
See the genomic reference sequence for the SUCLG1 gene (NG_016755.1).
RefSeq protein
See the reference protein sequence for succinate--CoA ligase (NP_003840.2).

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P53597 [Domain Mapping of Disease Mut...]
P53597
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondri...
RecName: Full=Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; AltName: Full=Succinyl-CoA synthetase subunit alpha; Short=SCS-alpha; Flags: Precursor
gi|223634731|sp|P53597.4|SUCA_HUMAN

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