MICU2, mitochondrial calcium uptake 2, 221154

N. diseases: 4; N. variants: 2
Disease: Young onset Parkinson disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.010 GeneticVariation disease BEFREE Our findings support a model in which the PD-related E3 ubiquitin ligase Parkin directly participates in the selective regulation of the MCU complex regulator MICU1 and, indirectly, also of the MICU2 gatekeeper, thus indicating that Parkin loss of function could contribute to the impairment of the ability of mitochondria to handle Ca<sup>2+</sup> and consequently to the pathogenesis of PD. 30242232 2018