Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2gene that is involved in the transport of divalent transition metal cations.[1][2][3] It appears to protect cells from manganese[4] and zinc toxicity,[5] possibly by causing cellular efflux and/or lysosomal sequestration. However, it potentiates the toxic effects of cadmium and nickel on developing neurites.[6]
Deficiency is associated with spastic paraplegia and Kufor-Rakeb syndrome, in which there is progressive parkinsonism with dementia.[7]
References
↑Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE (October 2004). "Characterization of the P5 subfamily of P-type transport ATPases in mice". Biochemical and Biophysical Research Communications. 323 (3): 731–8. doi:10.1016/j.bbrc.2004.08.156. PMID15381061.
↑Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C (October 2006). "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase". Nature Genetics. 38 (10): 1184–91. doi:10.1038/ng1884. PMID16964263.
