POMK, Official Symbol POMKprovided by HGNC Official Full Name protein O-mannose kinaseprovided by HGNC Primary source HGNC:HGNC:26267 See related Ensembl:ENSG00000185900 MIM:615247; AllianceGenome:HGNC:26267 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SGK196; MDDGA12; MDDGC12 Summary 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. [provided by RefSeq, May 2013] Expression Ubiquitous expression in brain (RPKM 2.1), testis (RPKM 1.7) and 25 other tissues See more Orthologs mouse all