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Article

Structure and Substrate Specificity of Human Short-Chain Acyl-CoA Dehydrogenase and Insights into Pathogenicity of Disease-Associated Mutations.

International journal of molecular sciences - 14 Mar 2026

Bai Fang, Li Xinru, Ju Kaide, Pan Xijiang, Jin Ye, You Zhijing, Zhang Lili, Liu Zhaoxia, Zhang Shuyang, Luan Xiaodong

Abstract excerpt

Short-chain acyl-CoA dehydrogenase (SCAD) is a critical enzyme in mitochondrial fatty acid β-oxidation, catalyzing the initial dehydrogenation of short-chain acyl-CoAs. Mutations in the ACADS gene cause SCAD deficiency (SCADD), a disorder with remarkably heterogeneous clinical presentation. However, the molecular mechanisms underlying substrate specificity and the pathogenicity of most ACADS variants remain...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41898520
DOI: 10.3390/ijms27062657
PMCID: PMC13027082

Genes

ACADS
C6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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