PANK2

Molecular characteristics

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a rare genetic disorder. It is caused by mutations in the PANK2 gene leading to a deficiency of the PANK2 protein
PANK2’s job in the cell is to help convert vitamin B5 (pantothenate) into an important energy producing chemical called Coenzyme A. It is unclear how this disruption to the energy production causes abnormal iron accumulation in the brain.