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
