POMGNT2

Description

The POMGNT2 gene provides instructions for making an enzyme called protein O-mannosyltransferase 2. This enzyme plays a crucial role in the glycosylation of proteins, a process that adds sugar molecules to proteins and is essential for their proper function. POMGNT2 is particularly active in the brain and muscles, where it helps to regulate the assembly and stability of important proteins. Mutations in the POMGNT2 gene can lead to a range of debilitating disorders that affect these tissues.

Associated Diseases

• Muscle-eye-brain disease (MEB)
• Walker-Warburg syndrome (WWS)
• Fukuyama congenital muscular dystrophy (FCMD)
• Congenital muscular dystrophy type 1D (CMD1D)
• Cerebral palsy

Did you know?

POMGNT2 is one of several genes involved in glycosylation, a process essential for the proper folding, stability, and function of many proteins. Mutations in different glycosylation genes can lead to a range of overlapping disorders, highlighting the complex and interconnected nature of these processes.