POMT1

POMT1

POMT1 (Protein O-mannosyl-transferase 1) is an enzyme that in humans is encoded by the POMT1 gene. This enzyme is crucial for the proper glycosylation of alpha-dystroglycan, a protein that plays a significant role in muscle integrity and function. Mutations in the POMT1 gene are associated with several forms of congenital muscular dystrophy.

Function

POMT1 is part of a complex that catalyzes the first step in the O-mannosylation pathway, which involves the transfer of mannose from dolichol-phosphate-mannose to serine or threonine residues on target proteins. This modification is essential for the proper function of alpha-dystroglycan, which is involved in linking the extracellular matrix to the cytoskeleton in muscle cells.

Clinical Significance

Mutations in the POMT1 gene can lead to a spectrum of muscular dystrophies, including:

• Walker-Warburg syndrome
• Muscle-eye-brain disease
• Congenital muscular dystrophy type 1C

These conditions are characterized by muscle weakness, developmental delay, and in some cases, brain and eye abnormalities. The severity of the symptoms can vary widely depending on the specific mutation and its impact on enzyme function.

Genetic Information

The POMT1 gene is located on chromosome 9q34.1. It consists of multiple exons and encodes a protein that is part of the protein O-mannosyltransferase family. The gene is highly conserved across species, indicating its essential role in cellular function.

Research and Developments

Recent studies have focused on understanding the molecular mechanisms by which POMT1 mutations lead to disease, as well as exploring potential therapeutic approaches. Gene therapy and small molecule drugs that can enhance residual enzyme activity are areas of active investigation.

Also see

• Alpha-dystroglycan
• Glycosylation
• Congenital muscular dystrophy
• Protein O-mannosyl-transferase 2 (POMT2)

References

Template:Congenital muscular dystrophy Template:Glycosylation