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Article

Impact of missense mutations on the structure-function relationship of human succinyl-CoA synthetase using in silico analysis.

Mitochondrion - 1 Jan 2025

Elabed Selma, Alila Fersi Olfa, Tlili Abdelaziz, Fendri Ahmed, Fakhfakh Faiza

Abstract excerpt

The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with succinyl-CoA synthetase (SCS) deficiency caused by pathogenic variants in genes encoding its two subunits. SCS is a mitochondrial enzyme involved in several metabolic pathways and acts as a heterodimer composed of α and β subunits encoded by SUCLG1 and SUCLA2 genes, respectively. The purpose of this study was to analyze...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Docking Simulation

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Protein Conformation

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Source

Identifiers

PMID: 39500468
DOI: 10.1016/j.mito.2024.101978

Genes

SUCLA2
SUCLG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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