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ATP13A2

MIM.610513 1p36

Monday 11 February 2008

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