POMT1 : protein O-mannosyltransferase 1

Description

The POMT1 gene provides instructions for making an enzyme called protein O-mannosyltransferase 1. This enzyme plays a pivotal role in protein glycosylation, a process where sugar molecules are attached to proteins. Glycosylation is crucial for proper protein folding, stability, and function. POMT1 is involved in adding mannose sugar molecules to proteins, a step essential for the synthesis of glycosylphosphatidylinositol (GPI) anchors, which attach proteins to cell membranes. This gene is expressed in various tissues, particularly in the brain, muscle, and liver.

Associated Diseases

• Congenital muscular dystrophy type 1D (CMD1D): This severe form of muscular dystrophy is caused by mutations in the POMT1 gene, leading to impaired protein glycosylation and muscle weakness.
• Walker-Warburg syndrome (WWS): This rare, severe developmental disorder characterized by brain malformations, muscle weakness, and eye abnormalities, can also be caused by mutations in POMT1.
• Muscle-eye-brain disease (MEB): This disorder, similar to WWS but with milder symptoms, is also associated with POMT1 mutations.
• Other disorders: Mutations in POMT1 have also been linked to other neurological and muscular disorders, demonstrating the gene‘s vital role in maintaining cellular function.

Did you know?

Mutations in the POMT1 gene can lead to a range of disorders, highlighting the gene‘s crucial role in maintaining the integrity and function of various proteins and cellular processes.