GLB1 : galactosidase beta 1
Description
The GLB1 gene provides instructions for making the enzyme beta-galactosidase, a critical component of lysosomes. These cellular compartments break down complex molecules, including sugars and lipids. GLB1‘s role is to hydrolyze galactose-containing molecules, ensuring proper lysosomal function. Mutations in GLB1 can disrupt this process, leading to the accumulation of undigested substances, which can have detrimental effects on various tissues and organs.
Associated Diseases
Did you know?
GLB1 gene mutations can lead to a wide spectrum of clinical presentations, from severe, early-onset forms to milder, later-onset forms.
