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PANK2 - pantothenate kinase 2
- Synonym(s) : FLJ11729, Hallervorden-Spatz syndrome, HARP, HSS, pantothenate kinase-associated neurodegeneration, PKAN
- Previous symbols and names : C20orf48, NBIA1, neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)
- Type : gene with protein product
- Chromosomal location : 20p13
- OMIM: 606157
- HGNC: 15894
- UniProtKB: Q9BZ23
- Genatlas: PANK2
- GenCC: PANK2
- Ensembl: ENSG00000125779
- IUPHAR-DB: -
- Reactome: Q9BZ23
- LOVD: PANK2
Diseases list
- Disease-causing germline mutation(s) in Atypical pantothenate kinase-associated neurodegeneration
ORPHA:216873 
- Disease-causing germline mutation(s) in Classic pantothenate kinase-associated neurodegeneration
ORPHA:216866
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
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