PANK1
Description
The PANK1 (pantothenate kinase 1) is a protein-coding gene located on chromosome 10.
Pantothenate kinase 1 is an enzyme encoded by the PANK1 gene in humans. It belongs to the pantothenate kinase family, which includes PANK1, PANK2, PANK3, and PANK4 in mammals. Pantothenate kinase is essential for coenzyme A (CoA) biosynthesis in bacteria and mammalian cells, catalyzing the first committed step in the universal pathway leading to CoA. This enzyme is regulated by feedback inhibition through CoA. Alternative splicing has been observed at this locus, resulting in three identified variants, each encoding a distinct isoform.
PANK1 is also known as PANK.
Associated Diseases
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- Alzheimer disease
- nonpapillary renal cell carcinoma
- colorectal cancer
- glycogen storage disease VI
