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Article

Heart is the most susceptible organ in an isogenic background to loss of function mutations in the mitochondrial metallochaperone SCO1.

Human molecular genetics - 19 Sept 2025

Ghosh Sampurna, Jett Kimberly A, Baker Zakery N, Boulet Aren, Hossain Amzad, Moore Stanley A, Ralle Martina, Ling Binbing, Cobine Paul A, Leary Scot C

Abstract excerpt

SCO1 is a nuclear-encoded protein with roles in cytochrome c oxidase (COX) assembly and the regulation of copper homeostasis. It remains unclear, however, why mutations in this ubiquitously expressed gene product cause distinct, tissue-specific forms of disease that primarily affect heart, liver or brain function. To gain a better understanding of the clinical heterogeneity observed across SCO1 pedigrees, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40679281
DOI: 10.1093/hmg/ddaf123
PMCID: PMC12449214

Genes

SCO1

Variants

Provenance

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