POMK

JCGG-STR033506		JCGG-STR033507

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.
O-mannose congenital muscular dystrophy dystroglycanopathy α-dystroglycan

Glc	Man	Gal	GlcNAc	GalNAc	Fuc	Xyl	Neu5Ac	Neu5Gc	GlcA	IdoA	GlcN