GNPTG : N-acetylglucosamine-1-phosphate transferase subunit gamma
Description
GNPTG, or the gene encoding N-acetylglucosamine-1-phosphotransferase subunit gamma, plays a pivotal role in the intricate world of lysosomes. These cellular organelles act as recycling centers, breaking down waste products and cellular debris. GNPTG is crucial for the proper trafficking of lysosomal enzymes, ensuring their delivery to these vital compartments. Mutations in GNPTG can disrupt this delicate process, leading to a spectrum of lysosomal storage disorders characterized by the accumulation of undigested materials within cells.
Associated Diseases
Did you know?
GNPTG mutations can result in a wide range of clinical presentations, from severe, early-onset forms to milder, later-onset variations, highlighting the complex interplay between genetic factors and disease severity.
