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Article

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

Biochemical and biophysical research communications - 24 Sept 2000

Horvath R, Lochmüller H, Stucka R, Yao J, Shoubridge E A, Kim S H, Gerbitz K D, Jaksch M

Abstract excerpt

At least three proteins, COX17p, SCO1p, and its homologue SCO2p are thought to be involved in mitochondrial copper transport to cytochrome-c-oxidase (COX), the terminal enzyme of the respiratory chain. Recently, we and others have shown that mutations in SCO2 are associated with a lethal infantil...

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Source

Identifiers

PMID: 11027508
DOI: 10.1006/bbrc.2000.3495

Genes

COX17
SCO1
SCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11027508-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.PMID 11027508Read ↗

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