Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.L151P
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SCO2

NM_005138.3:p.L151P

Associated Papers

Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.

Miliotou AN et al.

Pharmaceutics, 2023

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

Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases.

Chadha R et al.

Bioinformation, 2014

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.

Sambuughin N et al.

Journal of Human Genetics, 2013

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

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

Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity.

Foltopoulou PF et al.

Molecular Genetics and Metabolism, 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."