Variant: rs121918227 

    present in Gene: ATP13A2
    present in Chromosome: 1
    Position on Chromosome: 16996008
    Alleles of this Variant: C/G

rs121918227 in ATP13A2 gene and KUFOR-RAKEB SYNDROME PMID 17485642 2007 ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

PMID 18413573 2008 PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.

PMID 22768177 2012 Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.

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

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 22296644 2012 ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

PMID 28137957 2017 Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 21542062 2011 Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

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