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 cln12 disease. Among its related pathways are Neuroscience and Ion channel transport. 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
May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.