Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.C133S
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SCO2

NM_005138.3:p.C133S

Associated Papers

Mitochondrial copper in human genetic disorders.

Garza NM et al.

Trends in Endocrinology and Metabolism: Tem, 2023

Mitochondrial Sco proteins are involved in oxidative stress defense.

Ekim Kocabey A et al.

Redox Biology, 2019

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.

Leary SC et al.

Molecular Biology of the Cell, 2013

23345593 (PubMed )
Supplement: supp_E12-09-0705v1_CombinedSupMats.pdf

A structural characterization of human SCO2.

Banci L et al.

Structure (london, England : 1993), 2007

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

Leary SC et al.

Cell Metabolism, 2007

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

Williams JC et al.

The Journal of Biological Chemistry, 2005

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.

Tarnopolsky MA et al.

American Journal of Medical Genetics. Part A, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."