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Article

Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.

BMC structural biology - 21 Oct 2011

Er Tze-Kiong, Chen Chih-Chieh, Liu Yen-Yi, Chang Hui-Chiu, Chien Yin-Hsiu, Chang Jan-Gowth, Hwang Jenn-Kang, Jong Yuh-Jyh

Abstract excerpt

BACKGROUND: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is an autosomal recessive disease caused by the defects in the mitochondrial electron transfer system and the metabolism of fatty acids. Recently, mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene, encoding electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) have been reported to be the major causes of...

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Source

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Identifiers

PMID: 22013910
DOI: 10.1186/1472-6807-11-43
PMCID: PMC3209457

Genes

ETFDH
MADD

Variants

Provenance

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Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.PMID 22013910Read ↗

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