POMK

Description

The POMK (protein O-mannose kinase) is a protein-coding gene located on chromosome 8.

POMK specifically phosphorylates the 6-position of an O-mannose within the trisaccharide GalNAc-beta-1,3-GlcNAc-beta-1,4-mannose, forming phosphorylated O-mannosyl trisaccharide. This modified trisaccharide is a critical component of alpha-dystroglycan (DAG1) and is essential for high-affinity binding to laminin G-like domain-containing extracellular proteins. POMK exhibits kinase activity only when the GalNAc-beta-3-GlcNAc-beta-terminus is attached to the 4-position of O-mannose, indicating that this disaccharide serves as the substrate recognition motif.

POMK is also known as MDDGA12, MDDGC12, SGK196.

Associated Diseases

• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12
• Congenital muscular dystrophy with cerebellar involvement
• Walker-Warburg syndrome