Literature summary for 6.2.1.4 extracted from

Carrozzo, R.; Verrigni, D.; Rasmussen, M.; de Coo, R.; Amartino, H.; Bianchi, M.; Buhas, D.; Mesli, S.; Naess, K.; Born, A.P.; Woldseth, B.; Prontera, P.; Batbayli, M.; Ravn, K.; Joensen, F.; Cordelli, D.M.; Santorelli, F.M.; Tulinius, M.; Darin, N.; Duno, M.; Jouvencel, P.; Burlina, A.; Stangoni, G.; , B.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 phenotype and genotype correlations in 71 patients (2016), J. Inherit. Metab. Dis., 39, 243-252 .

Protein Variants

Protein Variants	Comment	Organism
A209E	the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome	Homo sapiens
E263K	the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome	Homo sapiens
H71R	the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome	Homo sapiens

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
GTP + succinate + CoA	Homo sapiens	-	GDP + phosphate + succinyl-CoA	-	?

Organism	UniProt	Comment	Textmining
Homo sapiens	P53597	-	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
GTP + succinate + CoA	-	Homo sapiens	GDP + phosphate + succinyl-CoA	-	?

Synonyms	Comment	Organism
succinate-CoA ligase	-	Homo sapiens
SUCLG1	-	Homo sapiens

Cofactor	Comment	Organism	Structure
GTP	-	Homo sapiens

General Information	Comment	Organism
malfunction	enzyme mutations cause the encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria	Homo sapiens

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Release 2023.1 (January 2023)