ATP13A3 ATPase 13A3
Gene ID: 79572, updated on 28-Oct-2024Gene type: protein coding
Also known as: PPH5; AFURS1
- See all available tests in GTR for this gene
- Go to complete Gene record for ATP13A3
- Go to Variation Viewer for ATP13A3 variants
Summary
ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pulmonary hypertension, primary, autosomal recessive | See labs |
Genomic context
- Location:
- 3q29
- Sequence:
- Chromosome: 3; NC_000003.12 (194402677..194494334, complement)
- Total number of exons:
- 41
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP13A3 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
- Variation ViewerRelated Variants
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