Entrez gene ID | | 23400 |
Official gene symbol | | ATP13A2 |
Full name | | ATPase type 13A2 |
Aliases | | ,FLJ26510,HSA9947,KRPPD,PARK9, |
Gene summary | | 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. |
Location | | Chromosome: 1 Locus: 1p36 |
Gene position | | 17338423 - 17312453 Map Viewer |
Gene orientation | | minus |
Gene size | | 25971 bp |
Gene sequence |
| |
OMIM ID | | 610513 |