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PPA1

Synonyms
HEL-S-66p, IOPPP, PP, PP1, SID6-8061
External resources
Summary
The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,949
Likely benign
2,652
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PPA1 gene.

Phenotype class
Patients in 3billion (%)

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