Variant: rs759452074 

    present in Gene: SCO2;NCAPH2
    present in Chromosome: 22
    Position on Chromosome: 50523835
    Alleles of this Variant: C/A;T

rs759452074 in SCO2;NCAPH2 gene and Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency PMID 14994243 2004 Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.

PMID 19336478 2009 Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

PMID 10545952 1999 Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

PMID 19353847 2009 A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

PMID 25959673 2015 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.

PMID 17189203 2007 The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

PMID 10749987 2000 Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

PMID 11673586 2001 Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

rs759452074 in SCO2;NCAPH2 gene and Leigh Disease PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.