Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.6.3.1 (
Mg2+-ATPase
)
1,484
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in
ATP13A2
lead to Kufor-Rakeb syndrome, a parkinsonism with dementia.
ATP13A2
belongs to the P-type transport ATPases, a large family of primary active transporters that exert vital cellular functions. However, the cellular function and transported substrate of
ATP13A2
remain unknown. To discuss the role of
ATP13A2
in neurodegeneration, we first provide a short description of the architecture and transport mechanism of P-type transport ATPases. Then, we briefly highlight key P-type ATPases involved in neuronal disorders such as the copper transporters ATP7A (Menkes disease), ATP7B (Wilson disease), the Na(+)/K(+)-ATPases ATP1A2 (familial hemiplegic migraine) and ATP1A3 (rapid-onset dystonia parkinsonism). Finally, we review the recent literature of
ATP13A2
and discuss
ATP13A2
's putative cellular function in the light of what is known concerning the functions of other, better-studied P-type ATPases. We critically review the available data concerning the role of
ATP13A2
in heavy metal transport and propose a possible alternative hypothesis that
ATP13A2
might be a
flippase
. As a
flippase
,
ATP13A2
may transport an organic molecule, such as a lipid or a peptide, from one membrane leaflet to the other. A
flippase
might control local lipid dynamics during vesicle formation and membrane fusion events.
...
PMID:Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders. 2490 74
