SCO1 Chromosome 17
Synthesis of cytochrome C oxidase 1
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What This Gene Does
Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000133028
Associated Conditions (7)
Mitochondrial complex IV deficiency
nuclear type 4
Inborn genetic diseases
Leigh syndrome
nuclear type 1
SCO1-related disorder
Uterine corpus endometrial carcinoma
Key Variants
RS1224695466
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 4, Inborn genetic diseases
Health Risk
RS139771078
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 4
Health Risk
RS370809239
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371690301
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS376145746
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS61753148
Conflicting classifications of pathogenicity
Leigh syndrome, Inborn genetic diseases, Mitochondrial complex IV deficiency
Health Risk
RS751482122
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766825748
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS774730754
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 4, Mitochondrial complex IV deficiency
Health Risk
RS1176555010
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS1199224400
Pathogenic
Health Risk
RS587776629
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 4, Mitochondrial complex IV deficiency
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1224695466 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 4, Inborn genetic diseases |
| RS139771078 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 4 |
| RS370809239 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371690301 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS376145746 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS61753148 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Inborn genetic diseases, Mitochondrial complex IV deficiency |
| RS751482122 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766825748 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774730754 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 4, Mitochondrial complex IV deficiency |
| RS1176555010 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS1199224400 | Health Risk | Pathogenic | — |
| RS587776629 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 4, Mitochondrial complex IV deficiency |
| RS587777220 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 4, Mitochondrial complex IV deficiency |
| RS104894630 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 4, Mitochondrial complex IV deficiency |
| RS766454175 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 4, Mitochondrial complex IV deficiency |
| RS770131276 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 4, Mitochondrial complex IV deficiency |