PANK2 (Q9BZ23) variants and mutations

PANK2 (also known as Q9BZ23) is a human protein-coding gene encoding a pantothenate kinase 2, mitochondrial protein. Its annotated function is mitochondrial isoform that 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 mitochondrion. This analysis covers 611 PANK2 variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes pantothenate kinase-associated neurodegeneration, hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal d, and dystonic disorder. Example PANK2 variants include M1M, M1V, and M1L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

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 PANK2 variants

Examples include M1M, M1V, M1L, M1K, M1T, M1R, M1I, M1W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.