Overview:

POMK or protein-O-mannose kinase encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. POMK is involved in cell surface presentation of laminin -binding carbohydrates on alpha-dystroglycan (1). Mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy (2).

Gene Aliases:

MDDGA12; SGK196

Genbank Number:

NM_032237

References:

1. Jae, L. T.et.al: Deciphering the glycosylome of dystroglycanopathies using haploid screens for Lassa virus entry. Science 340: 479-483, 2013.

2. Yoshida-Moriguchi, T. et.al: SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science 341: 896-899, 2013.