PLGLA
Description
The PLGLA (plasminogen like A (pseudogene)) is a pseudo gene located on chromosome 2.
PLGLA is a lysosomal alpha-glucosidase that catalyzes the hydrolysis of alpha-1,4-glucosidic linkages in glycogen, releasing glucose. It is encoded by the GAA gene. Deficiency of PLGLA leads to Pompe disease, a lysosomal storage disorder characterized by the accumulation of glycogen in various tissues.
PLGLA, also known as the lysosomal alpha-glucosidase, is a critical enzyme involved in the breakdown of glycogen, a complex carbohydrate stored in the liver and muscles. It specifically targets alpha-1,4-glucosidic linkages in glycogen, releasing glucose molecules for energy production. PLGLA deficiency leads to glycogen storage disease type II (Pompe disease), characterized by the accumulation of glycogen in various tissues, particularly muscle and heart, resulting in severe muscle weakness and heart problems. This enzyme is crucial for maintaining proper energy metabolism and preventing glycogen buildup.
PLGLA is also known as PLGLA1, PLGP2, PRGA.
