GMPPB

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Mannose-1-Phosphate Guanyl Transferase Beta
other names
  • GDP mannose pyrophosphorylase B
  • GTP mannose-1-phosphate guanylyl transferase beta
Properties of human protein
Mass / length primary structure 39,834 Daltons / 360 amino acids (Isoform1)

42,622 Daltons / 387 amino acids (Isoform2)

Isoforms 2
Identifier
Gene name GMPPB
External IDs
Enzyme classification
EC, category 2.7.7.13
Orthologue
human House mouse
Entrez 29925 331026
Ensemble ENSG00000173540 ENSMUSG00000070284
UniProt Q9Y5P6 Q8BTZ7
Refseq (mRNA) NM_013334 NM_177910
Refseq (protein) NP_037466 NP_808578
Gene locus Chr 3: 49.72 - 49.72 Mb Chr 9: 108.05 - 108.05 Mb
PubMed search 29925 331026

GMPPB is a gene that codes for mannose-1-phosphate guanyl transferase beta . The enzyme catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose and inorganic diphosphate - a reaction that plays a role in the creation of N-linked oligosaccharides . GDP-mannose is required for 4 glycosylation reactions, including O-mannosylation of membrane and secretory glycoproteins such as alpha-dystroglycan.

Mutations in the GMPPB gene can lead to various forms of congenital muscular dystrophy , including Walker-Warburg syndrome or muscle-eye-brain disease .

Individual evidence

  1. ↑ UniProt Q9Y5P6
  2. ↑ GMPPB.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ GDP-mannose pyrophosphorylase B
  4. ↑ "Muscular Dystrophy-Dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1".  In: Online Mendelian Inheritance in Man . (English)