PANK2 : pantothenate kinase 2

Description

The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is essential for the production of coenzyme A (CoA), a vital molecule involved in numerous metabolic processes, particularly the synthesis of neurotransmitters like acetylcholine. CoA plays a crucial role in energy production, fatty acid metabolism, and the breakdown of alcohol. Mutations in the PANK2 gene can disrupt CoA production, leading to a deficiency that affects brain development and function.

Associated Diseases

• Neurodegeneration with Brain Iron Accumulation (NBIA)
• Pantothenate Kinase-Associated Neurodegeneration (PKAN)
• Hallervorden-Spatz syndrome

Did you know?

The PANK2 gene is located on chromosome 20, a chromosome known to be involved in various neurological disorders.