ATP13A2
MIM.610513 1p36
ATP13A2 belongs to the P-type superfamily of ATPases that transport inorganic cations and other substrates across cell membranes.
Pathology
germline mutations in early-onset parkinsonism with dementia close to Kufor-Rakeb syndrome (KRS) (MIM.606693)
See also
8 mutated Parkinson disease genes known (2008)
SNCA | PARK2 | UCHL1 | PINK1 | DJ1 | LRRK2 | ATP13A2 | HTRA2 |
References
Di Fonzo, A.; Chien, H. F.; Socal, M.; Giraudo, S.; Tassorelli, C.; Iliceto, G.; Fabbrini, F.; Marconi, R.; Fincati, E.; Abbruzzese, F.; Marini, P.; Squitieri, F.; and 14 others : ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 68: 1557-1562, 2007. PubMed ID : #17485642#
Ramirez, A.; Heimbach, A.; Grundemann, J.; Stiller, B.; Hampshire, D.; Cid, L. P.; Goebel, I.; Mubaidin, A. F.; Wriekat, A.-L.; Roeper, J.; Al-Din, A.; Hillmer, A. M.; Karsak, M.; Liss, B.; Woods, C. G.; Behrens, M. I.; Kubisch, C. : Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nature Genet. 38: 1184-1191, 2006. PubMed ID : #16964263#