ATP13A2
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene 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; and from iron toxicity, possibly by preserving lysosome integrity against iron-induced lipid peroxidation.[6] However, it potentiates the toxic effects of cadmium and nickel on developing neurites,[7] and of the widely used herbicide paraquat[8] possibly by increasing polyamine uptake.[9]
Deficiency is associated with spastic paraplegia and Kufor-Rakeb syndrome, in which there is progressive parkinsonism with dementia.[10]
References
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- ^ Online Mendelian Inheritance in Man (OMIM): ATPase, TYPE 13A2; ATP13A2 - 610513
External links
[edit | edit source]- Human ATP13A2 genome location and ATP13A2 gene details page in the UCSC Genome Browser.
Further reading
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