POMK Proteins

Protein Information

This gene 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. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants.

Synonyms

4930444A02Rik; MDDGA12; MDDGC12; Pomk; probable inactive protein kinase-like protein SgK196; protein kinase-like protein SgK196; Protein O-mannose kinase; protein-O-mannose kinase; RGD1310810; Sgk196; Sugen kinase 196