PPA2 inorganic pyrophosphatase 2
Gene ID: 27068, updated on 5-Mar-2024Gene type: protein coding
Also known as: SCFI; SCFAI; HSPC124; SID6-306
- See all available tests in GTR for this gene
- Go to complete Gene record for PPA2
- Go to Variation Viewer for PPA2 variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed. GeneReviews: Not available | |
| Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. GeneReviews: Not available | |
| Sudden cardiac failure, alcohol-induced | See labs |
| Sudden cardiac failure, infantile | See labs |
Genomic context
- Location:
- 4q24
- Sequence:
- Chromosome: 4; NC_000004.12 (105369077..105474070, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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