POMK, protein O-mannosyl kinase, is a key enzyme, which phosphorylates the C6 position of O-mannose in the O-mannosyl trisaccharide (GalNAc-GlcNAc-Man-Ser/Thr) on a-dystroglycan (DAG1). POMK is also known as SGK196. Homozygous mutations in POMK gene cause congenital muscular dystrophies and knockout mice develop hydrocephalus.
congenital muscular dystrophy
This page does not indicate all of the enzymatic reaction, and expression of "POMK".