Aliases for GMPPB Gene
External Ids for GMPPB Gene
Previous GeneCards Identifiers for GMPPB Gene
This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
GeneCards Summary for GMPPB Gene
GMPPB (GDP-Mannose Pyrophosphorylase B) is a Protein Coding gene. Diseases associated with GMPPB include Muscular Dystrophy-Dystroglycanopathy , Type C, 14 and Muscular Dystrophy-Dystroglycanopathy , Type B, 14. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include GTP binding and mannose-1-phosphate guanylyltransferase activity. An important paralog of this gene is GMPPA.
UniProtKB/Swiss-Prot for GMPPB Gene
Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.