PPA2 Chromosome 4
Inorganic pyrophosphatase 2
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What This Gene Does
The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Sudden cardiac failure
infantile
alcohol-induced
Inborn genetic diseases
PPA2-related disorder
Cardiovascular phenotype
Key Variants
RS150745595
Conflicting classifications of pathogenicity
Health Risk
RS151306309
Conflicting classifications of pathogenicity
Health Risk
RS151331559
Conflicting classifications of pathogenicity
Sudden cardiac failure, infantile, alcohol-induced
Health Risk
RS372302682
Conflicting classifications of pathogenicity
Health Risk
RS373735128
Conflicting classifications of pathogenicity
Sudden cardiac failure, alcohol-induced, infantile
Health Risk
RS375129675
Conflicting classifications of pathogenicity
Sudden cardiac failure, infantile, alcohol-induced
Health Risk
RS58033964
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757950857
Conflicting classifications of pathogenicity
Health Risk
RS758551684
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sudden cardiac failure, infantile
Health Risk
RS760824971
Conflicting classifications of pathogenicity
Sudden cardiac failure, alcohol-induced, infantile
Health Risk
RS761515078
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765867575
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150745595 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151306309 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151331559 | Health Risk | Conflicting classifications of pathogenicity | Sudden cardiac failure, infantile, alcohol-induced |
| RS372302682 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373735128 | Health Risk | Conflicting classifications of pathogenicity | Sudden cardiac failure, alcohol-induced, infantile |
| RS375129675 | Health Risk | Conflicting classifications of pathogenicity | Sudden cardiac failure, infantile, alcohol-induced |
| RS58033964 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757950857 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758551684 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Sudden cardiac failure, infantile |
| RS760824971 | Health Risk | Conflicting classifications of pathogenicity | Sudden cardiac failure, alcohol-induced, infantile |
| RS761515078 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765867575 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769821441 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781655422 | Health Risk | Conflicting classifications of pathogenicity | Sudden cardiac failure, alcohol-induced, infantile |
| RS1032144565 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1187924642 | Health Risk | Likely pathogenic | Sudden cardiac failure, infantile, Sudden cardiac failure |
| RS1723387280 | Health Risk | Likely pathogenic | Sudden cardiac failure, infantile, alcohol-induced |
| RS371147281 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS546693824 | Health Risk | Likely pathogenic | Sudden cardiac failure, infantile, Sudden cardiac failure |
| RS772083375 | Health Risk | Likely pathogenic | Sudden cardiac failure, infantile, Sudden cardiac failure |
| RS1057517678 | Health Risk | Pathogenic | Sudden cardiac failure, infantile, Sudden cardiac failure |
| RS1057517679 | Health Risk | Pathogenic | Sudden cardiac failure, infantile, Sudden cardiac failure |
| RS1057517680 | Health Risk | Pathogenic | Sudden cardiac failure, infantile, Sudden cardiac failure |
| RS2477134410 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS138215926 | Health Risk | Pathogenic/Likely pathogenic | Sudden cardiac failure, alcohol-induced, infantile |
| RS139076647 | Health Risk | Pathogenic/Likely pathogenic | Sudden cardiac failure, infantile, Inborn genetic diseases |
| RS146013446 | Health Risk | Pathogenic/Likely pathogenic | Sudden cardiac failure, infantile, alcohol-induced |
| RS752062224 | Health Risk | Pathogenic/Likely pathogenic | Sudden cardiac failure, infantile, alcohol-induced |