Genomes and Genes
Gene Symbol: Atp13a2
Description: ATPase cation transporting 13A2
Alias: RGD1307977, ATPase 13A2, ATPase type 13A2
- Matsui H, Sato F, Sato S, Koike M, Taruno Y, Saiki S, et al. ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons. FEBS Lett. 2013;587:1316-25 pubmed publisher..b>ATP13A2 was identified as the causative gene in KRS...
- Holemans T, SÃ¸rensen D, van Veen S, Martin S, Hermans D, Kemmer G, et al. A lipid switch unlocks Parkinson's disease-associated ATP13A2. Proc Natl Acad Sci U S A. 2015;112:9040-5 pubmed publisherb>ATP13A2 is a lysosomal P-type transport ATPase that has been implicated in Kufor-Rakeb syndrome and Parkinson's disease (PD), providing protection against Î±-synuclein, Mn(2+), and Zn(2+) toxicity in various model systems...
- Beilina A, Cookson M. Genes associated with Parkinson's disease: regulation of autophagy and beyond. J Neurochem. 2016;139 Suppl 1:91-107 pubmed publisher..This article is part of a special issue on Parkinson disease. ..
- Rajagopalan S, Rane A, Chinta S, Andersen J. Regulation of ATP13A2 via PHD2-HIF1Î± Signaling Is Critical for Cellular Iron Homeostasis: Implications for Parkinson's Disease. J Neurosci. 2016;36:1086-95 pubmed publisher..PHD2 inhibition was found to result in increased expression of ATP13A2, mutation of which is responsible for a rare juvenile form of PD known as Kufor-Rakeb syndrome...
- De La Hera D, Corradi G, Adamo H, de Tezanos Pinto F. Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake. Biochem J. 2013;450:47-53 pubmed publisher..Mutations of the human gene ATP13A2 underlie a form of PD (Parkinson's disease)...
- Tsunemi T, Krainc D. Zn²? dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation. Hum Mol Genet. 2014;23:2791-801 pubmed publisherMutations in ATP13A2 (PARK9) cause Kufor-Rakeb syndrome (KRS) characterized by juvenile-onset parkinsonism, pyramidal signs and dementia. PARK9 belongs to type 5 P-type ATPase with its putative function as a cation transporter...