POMT2 : protein O-mannosyltransferase 2

Description

The POMT2 gene encodes a protein called polypeptide N-acetylgalactosaminyltransferase 2, which plays a key role in protein glycosylation, a process where sugar molecules are attached to proteins. This glycosylation is critical for various cellular functions, including protein folding, stability, and signaling. POMT2, along with its partner POMT1, forms a complex that initiates the glycosylation process by attaching a specific sugar molecule, N-acetylgalactosamine, to the protein. This initial step sets the stage for further glycosylation modifications, ultimately influencing the protein‘s structure and function.

Associated Diseases

• Congenital Muscular Dystrophy Type 1D (CMD1D)
• Walker-Warburg Syndrome (WWS)
• Muscle-Eye-Brain Disease (MEB)
• Fukuyama Congenital Muscular Dystrophy (FCMD)

Did you know?

Mutations in the POMT2 gene are linked to a group of severe congenital muscular dystrophies, highlighting the essential role of glycosylation in muscle development and function.