PET100 Chromosome 19
PET100 cytochrome c oxidase chaperone
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What This Gene Does
Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000229833
Associated Conditions (7)
Abnormality of the mitochondrion
Mitochondrial complex IV deficiency
nuclear type 12
Inborn genetic diseases
nuclear type 1
PET100-related disorder
Congenital lactic acidosis
Key Variants
RS1459437890
Conflicting classifications of pathogenicity
Abnormality of the mitochondrion, Mitochondrial complex IV deficiency, nuclear type 12
Health Risk
RS556380451
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 12, Inborn genetic diseases
Health Risk
RS570620177
Conflicting classifications of pathogenicity
Health Risk
RS753554915
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 12, Mitochondrial complex IV deficiency
Health Risk
RS779243533
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1172004393
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 12, Mitochondrial complex IV deficiency
Health Risk
RS1399240553
Likely pathogenic
Health Risk
RS2031257693
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 12, Mitochondrial complex IV deficiency
Health Risk
RS2512664094
Likely pathogenic
Health Risk
RS1311193105
Pathogenic
Health Risk
RS2031258865
Pathogenic
Health Risk
RS587777839
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 12
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1459437890 | Health Risk | Conflicting classifications of pathogenicity | Abnormality of the mitochondrion, Mitochondrial complex IV deficiency, nuclear type 12 |
| RS556380451 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 12, Inborn genetic diseases |
| RS570620177 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753554915 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 12, Mitochondrial complex IV deficiency |
| RS779243533 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1172004393 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 12, Mitochondrial complex IV deficiency |
| RS1399240553 | Health Risk | Likely pathogenic | — |
| RS2031257693 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 12, Mitochondrial complex IV deficiency |
| RS2512664094 | Health Risk | Likely pathogenic | — |
| RS1311193105 | Health Risk | Pathogenic | — |
| RS2031258865 | Health Risk | Pathogenic | — |
| RS587777839 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 12 |
| RS587779779 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS977392512 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 12, nuclear type 1 |