POMK gene

protein-O-mannose kinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.

From NCBI Gene:

  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

From UniProt:

Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12): An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. [MIM:616094]

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12): An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [MIM:615249]

Cytogenetic Location: 8p11.21, which is the short (p) arm of chromosome 8 at position 11.21

Molecular Location: base pairs 43,093,506 to 43,123,180 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p11.21, which is the short (p) arm of chromosome 8 at position 11.21
  • MDDGA12
  • MDDGC12
  • SGK196