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SUCLG1 encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase.
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We report two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy. Mutational analysis of SUCLG1 gene showed the presence of c.41T > C in exon 1 in a homozygous state. This mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence.
These abnormal phenotypes are rescued upon ectopic expression of wild-type SUCLG1 in the patient's fibroblasts, thus functionally confirming the pathogenic nature of the SUCLG1 VUS identified in this patient and expanding the phenotypic spectrum for SUCLG1 deficiency
Long survival, to age 20 years or older, was reported in 12% of SUCLA2 (显示 SUCLA2 抗体) and in 10% of SUCLG1 patients.
First Chinese report of succinyl-CoA ligase (显示 SUCLG2 抗体) deficiency caused by novel SUCLG1 mutations; five novel pathogenic mutations in SUCLG1 were identified
3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 (显示 SUCLA2 抗体) and c.531+4A>T in SUCLG1).
Our results suggest that SUCLG1 mutations that lead to complete absence of SUCLG1 protein are responsible for a very severe disorder with antenatal manifestations, whereas a SUCLA2 (显示 SUCLA2 抗体)-like phenotype is found in patients with residual SUCLG1 protein.
This report enlarges the phenotypic spectrum of SUCLG1 mutations and confirms that a characteristic metabolic profile (presence of MMA (显示 MMD 抗体) and C4-DC carnitine in urines) and basal ganglia MRI (显示 C7ORF49 抗体) lesions are the hallmarks of SCS (显示 TWIST1 抗体) defects.
A novel mutation in the SUCLG1 gene was found in two newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch.
Pig GTP (显示 AK3 抗体)-specific succinyl-CoA (显示 OXCT1 抗体) synthetase was crystallized in the presence of succinate, magnesium ions and CoA, and the structure of the complex was determined by X-ray crystallography to 2.2 A resolution. Succinate binds in the carboxy-terminal domain of the beta-subunit (显示 POLG 抗体).
Structure of GTP-specific succinyl-CoA synthetase subunits in complex with CoA has been resolved.
succinyl-CoA (显示 OXCT1 抗体) synthetase is able to protect GTP (显示 AK3 抗体) from hydrolysis when the active-site histidine residue is not in position to be phosphorylated
ADP and GDP succinyl-CoA (显示 OXCT1 抗体) synthetases have different expression patterns and specificity
This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion.
succinate-CoA ligase, GDP-forming, alpha subunit
, succinate-CoA ligase, GDP-forming alpha subunit
, succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial
, succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial
, succinyl-CoA synthetase subunit alpha
, succinyl-CoA synthetase alpha subunit