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Article

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.

Human molecular genetics - 1 Jan 2010

Yang Hua, Brosel Sonja, Acin-Perez Rebeca, Slavkovich Vesna, Nishino Ichizo, Khan Raffay, Goldberg Ira J, Graziano Joseph, Manfredi Giovanni, Schon Eric A

Abstract excerpt

Mutations in SCO2, a protein required for the proper assembly and functioning of cytochrome c oxidase (COX; complex IV of the mitochondrial respiratory chain), cause a fatal infantile cardioencephalomyopathy with COX deficiency. We have generated mice harboring a Sco2 knock-out (KO) allele and a...

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Identifiers

PMID: 19837698
DOI: 10.1093/hmg/ddp477
PMCID: PMC2792155

Genes

SCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19837698-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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