Aliases for ATP13A2 Gene
External Ids for ATP13A2 Gene
Previous HGNC Symbols for ATP13A2 Gene
Previous GeneCards Identifiers for ATP13A2 Gene
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
GeneCards Summary for ATP13A2 Gene
ATP13A2 (ATPase 13A2) is a Protein Coding gene. Diseases associated with ATP13A2 include Kufor-Rakeb Syndrome and Spastic Paraplegia 78, Autosomal Recessive. Among its related pathways are Ion channel transport and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP13A3.
UniProtKB/Swiss-Prot for ATP13A2 Gene
ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957).