ATP13A4 Chromosome 3
ATPase 13A4
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What This Gene Does
Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity and polyamine transmembrane transporter activity. Predicted to be involved in intracellular calcium ion homeostasis and polyamine transmembrane transport. Predicted to be located in early endosome membrane and recycling endosome membrane. Predicted to be active in endoplasmic reticulum membrane and late endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
ATPase orphan transporters
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000127249
Associated Conditions (1)
ATP13A4-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138787975 | Health Risk | Conflicting classifications of pathogenicity | ATP13A4-related disorder, ATP13A4-related disorder |