POMGNT1

Description

The POMGNT1 gene provides instructions for making an enzyme called protein O-mannosyltransferase 1. This enzyme plays a critical role in the glycosylation of proteins, particularly in muscle and nerve cells. Glycosylation is a process that attaches sugar molecules to proteins, influencing their structure, function, and stability. Mutations in the POMGNT1 gene can disrupt this process, leading to a range of disorders affecting muscle and nervous system development.

Associated Diseases

• Muscle-Eye-Brain Disease (MEB)
• Walker-Warburg Syndrome (WWS)
• Fukuyama Congenital Muscular Dystrophy (FCMD)
• Cerebral Dysplasia with Muscular Dystrophy and Congenital Cataracts

Did you know?

Mutations in the POMGNT1 gene can cause a wide spectrum of disease severity, ranging from mild to severe, highlighting the complexity of the glycosylation process and its impact on human health.