PANK1 (Pantothenate kinase 1) variants and mutations
PANK1 (also known as Pantothenate kinase 1) is a human protein-coding gene encoding a pantothenate kinase 1 protein. Its annotated function is catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis. It is annotated at the cytoplasm. This analysis covers 1 PANK1 variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes neurodegenerative disease, Parkinson disease, and Alzheimer disease. Example PANK1 variants include D242N.
Variant analysis overview
- Gene: PANK1
- Protein: Pantothenate kinase 1
- UniProt accession: Q8TE04
- Organism: Homo sapiens
- Variants analyzed: 1
- Variant scope: all variants
- Completed: 2026-10-30
Variant and mutation evidence
- Variant composition: 1 substitution
- Prediction scores: 1 variants have prediction scores (100% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, Parkinson disease, Alzheimer disease, lysosomal storage disease, colorectal cancer, myopathy, alcohol drinking, color vision disorder, mathematical ability, hepatocellular carcinoma, premature birth, placental abruption.
Protein structure and variant hotspots
- Protein features: 3 binding sites; 1 post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable PANK1 variants
Examples include D242N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
Public PANK1 analysis runs
- PANK1 analysis run — PANK1 (1 variants) — completed 2026-10-30