PPA1
inorganic pyrophosphatase 1
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. [provided by RefSeq, Jul 2008]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372788606 | 10:71,966,066 | C/T | — | uncertain significance |
| rs377492765 | 10:71,968,982 | G/A | — | uncertain significance |
| rs376889498 | 10:71,969,328 | C/T | — | uncertain significance |
| rs1217728032 | 10:71,969,414 | G/C | — | uncertain significance |
| rs1487731782 | 10:71,973,309 | G/T | — | uncertain significance |
| rs541562503 | 10:71,974,321 | T/C | — | uncertain significance |
| rs756044836 | 10:71,977,626 | T/C | — | uncertain significance |
| rs76809526 | 10:71,980,782 | T/A | — | — |
| rs7077538 | 10:71,993,094 | T/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.