Variant: rs1303653650 

    present in Gene: ATP13A2
    present in Chromosome: 1
    Position on Chromosome: 16996059
    Alleles of this Variant: G/A

rs1303653650 in ATP13A2 gene and Dysmorphic features PMID 20683840 2010 Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

PMID 20853184 2011 Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

PMID 17485642 2007 ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

PMID 16964263 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

PMID 25149416 2014 Correlation between the biochemical pathways altered by mutated parkinson-related genes and chronic exposure to manganese.

PMID 25197640 2014 Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

PMID 22198378 2012 ATP13A2 regulates mitochondrial bioenergetics through macroautophagy.

PMID 22388936 2012 Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

PMID 21060012 2010 Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.

PMID 21665991 2011 Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.