rs544885605

This variant is located in the ATP13A2 gene.

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ClinVar annotation

Conflicting Classifications
6 submitters3 publications

not provided; Kufor-Rakeb syndrome;Autosomal recessive spastic paraplegia type 78; Inborn genetic diseases; not specified; Kufor-Rakeb syndrome

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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