DBR1
Description
The DBR1 gene provides instructions for making a protein called debranching enzyme. This enzyme is critical for the proper breakdown of glycogen, a storage form of glucose, within the mitochondria, the powerhouse of the cell. DBR1‘s role in mitochondrial function is essential for energy production and overall cellular health. Mutations in the DBR1 gene can disrupt this process, leading to a range of health issues.
Associated Diseases
Did you know?
DBR1 gene mutations can lead to a buildup of glycogen in the mitochondria, hindering energy production and contributing to various health problems.