GBE1
GBE1 is a gene that encodes an enzyme known as glycogen branching enzyme 1. This enzyme plays a crucial role in the synthesis of glycogen, a stored form of glucose in the body. By creating branches in the glycogen molecule, GBE1 helps to increase the solubility and accessibility of glucose when energy is needed.
Mutations in the GBE1 gene can lead to a rare genetic disorder called glycogen storage disease type IV, which affects the body's ability to properly store and utilize glycogen. Symptoms of this disorder can include muscle weakness, liver dysfunction, and other health complications, highlighting the importance of GBE1 in metabolic processes.