rs2076605
This variant is located in the ATP13A2 gene.
▶ClinVar annotation
not provided; Kufor-Rakeb syndrome; not specified; Autosomal recessive spastic paraplegia type 78
View on ClinVar →▶Research that mentions this SNP (1)
▶ATP13A2variability in Parkinson diseaseAssociationN=797Carles Vilariño-Güell et al.(2009)· Human Mutation
Comprehensive sequencing of ATP13A2 in 89 Tunisian familial parkinsonism probands identified 37 novel variants but found no segregation with disease within families and no significant association with non-familial Parkinson disease in 240 cases and 372 controls, nor evidence of elevated ATP13A2 mRNA expression in PD brains. This study concludes ATP13A2 genetic variability is unlikely to contribute to sporadic or familial Parkinson disease.
About ATP13A2
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
View all ATP13A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…