QuickView for POMK;jsessionid=A494030BCB0D2E2C17BB1C542602A637 (gene)

Gene Symbol:

POMK Homo sapiens

Full name:

protein-O-mannose kinase

Synonyms:

MDDGA12, MDDGC12, SGK196, protein O-mannose kinase, Sugen kinase 196, probable inactive protein kinase-like protein SgK196, protein kinase-like protein SgK196

Genomic Location:

Chr 8: 43067818-43097480

Description:

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 mutat...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus

External Links:

Entrez Gene

Cytogenetic Map:

8p11.21

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