Are There Any Clinical Implications Associated with Phosphoglycerate Kinase?
Mutations in the PGK1 gene, which encodes the human form of phosphoglycerate kinase, can lead to phosphoglycerate kinase deficiency, a rare genetic disorder. This condition can result in a range of symptoms, including hemolytic anemia, myopathy, and neurological issues due to impaired ATP production. Understanding the catalytic mechanism of PGK can help in developing therapeutic strategies for managing this deficiency.
