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Article

The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.

The Journal of biological chemistry - 5 May 2006

Cobine Paul A, Pierrel Fabien, Leary Scot C, Sasarman Florin, Horng Yih-Chern, Shoubridge Eric A, Winge Dennis R

Abstract excerpt

Sco1 is a metallochaperone that is required for copper delivery to the Cu(A) site in the CoxII subunit of cytochrome c oxidase. The only known missense mutation in human Sco1, a P174L substitution in the copper-binding domain, is associated with a fatal neonatal hepatopathy; however, the molecular basis for dysfunction of the protein is unknown. Immortalized fibroblasts from a SCO1 patient show a severe...

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

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Source

Identifiers

PMID: 16520371
DOI: 10.1074/jbc.M600496200

Genes

SCO1
COX17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.PMID 16520371Read ↗

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.Semantic proximity Read ↗

Human Sco1 functional studies and pathological implications of the P174L mutant.Semantic proximity Read ↗

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.Semantic proximity Read ↗

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.Semantic proximity Read ↗

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.Semantic proximity Read ↗

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.Semantic proximity Read ↗

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

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.Semantic proximity Read ↗

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.Semantic proximity Read ↗

Mitochondrial copper metabolism in yeast: mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidase.Semantic proximity Read ↗

Purification and characterization of yeast Sco1p, a mitochondrial copper protein.Semantic proximity Read ↗

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.Semantic proximity Read ↗

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