The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in specialized cellular structures called mitochondria, which are the cell’s energy-producing centers. Within mitochondria, pantothenate kinase 2 regulates the formation of a molecule called coenzyme A. Coenzyme A is found in all living cells, where it is essential for the body’s production of energy from carbohydrates, fats, and some protein building blocks (amino acids).
PANK2 is one of four human genes that provide instructions for making versions of pantothenate kinase. The functions of these different versions probably vary among tissue types and parts of the cell. The version produced by the PANK2 gene is active in cells throughout the body, including nerve cells in the brain.
Other Names
NBIA1; PANK2_HUMAN; pantothenate kinase 2 (Hallervorden-Spatz syndrome); pantothenic acid kinase
Related Genetics Topics
Identifiers
- NCBI Gene: 80025
- OMIM: 606157
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
