×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
GeneticVariation
disease
BEFREE
Overexpression of known pathogenic variants in SCO1 fibroblasts showed that p.G132S exacerbated the COX deficiency , whereas COX activity was partially or fully restored by p.P174L and p.M294V , respectively.
23878101
2013
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
GeneticVariation
disease
BEFREE
Mutations in both SCO1 and SCO2 are associated with distinct clinical phenotypes as well as tissue-specific COX deficiency , but the reason for such tissue specificity is unknown.
20864674
2010
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
GeneticVariation
disease
UNIPROT
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
19336478
2009
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
Biomarker
disease
GENOMICS_ENGLAND
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
19353847
2009
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
GeneticVariation
disease
UNIPROT
Human Sco1 functional studies and pathological implications of the P174L mutant.
17182746
2007
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
GeneticVariation
disease
UNIPROT
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
17189203
2007
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
Biomarker
disease
GENOMICS_ENGLAND
Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency.
15023375
2004
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
GeneticVariation
disease
BEFREE
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
11013136
2000
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
Biomarker
disease
BEFREE
We conclude that neither SCO1 nor COX17 are common causes of COX deficiency disorders.
11027508
2000
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
GeneticVariation
disease
UNIPROT
Studying a large family with multiple cases of neonatal ketoacidotic comas and isolated COX deficiency , we have mapped the disease locus to chromosome 17p13.1, in a region encompassing two candidate genes involved in COX assembly-namely, SCO1 and COX10.
11013136
2000
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
Biomarker
disease
MGD
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
Biomarker
disease
CTD_human
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.940
CausalMutation
disease
CLINVAR