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Article

A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway.

The Journal of biological chemistry - 1 Sept 2000

Dickinson E K, Adams D L, Schon E A, Glerum D M

Abstract excerpt

Deficiencies in cytochrome oxidase, the terminal enzyme of the mitochondrial respiratory chain, are most often caused by an inability to complete assembly of the enzyme. Pathogenic mutations in SCO2, which encodes a cytochrome oxidase assembly factor, were recently described in several cases of fatal infantile cardioencephalomyopathy. To determine the molecular etiology of these disorders, we describe the...

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Source

Identifiers

PMID: 10854440
DOI: 10.1074/jbc.M004032200

Genes

SCO2
SCO1

Variants

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.

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A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway.PMID 10854440Read ↗

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

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

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.Semantic proximity Read ↗

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

Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.Semantic proximity Read ↗

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Phenotypic consequences of a novel SCO2 gene mutation.Semantic proximity Read ↗

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.Semantic proximity Read ↗

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

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