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ATP13A2 - ATPase cation transporting 13A2
- Synonym(s) : CLN12, HSA9947
- Previous symbols and names : ATPase 13A2, ATPase type 13A2, PARK9, Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)
- Type : gene with protein product
- Chromosomal location : 1p36.13
- OMIM: 610513
- HGNC: 30213
- UniProtKB: Q9NQ11
- Genatlas: ATP13A2
- GenCC: ATP13A2
- Ensembl: ENSG00000159363
- IUPHAR-DB: 3156
- Reactome: Q9NQ11
- LOVD: ATP13A2
Diseases list
- Disease-causing germline mutation(s) in ATP13A2-related juvenile neuronal ceroid lipofuscinosis
ORPHA:314632 
- Disease-causing germline mutation(s) in Autosomal recessive spastic paraplegia type 78
ORPHA:513436 - Disease-causing germline mutation(s) (loss of function) in Kufor-Rakeb syndrome
ORPHA:306674
: AssessedAdditional information
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Research activities on this gene
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