MGP Database

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MGP005020

UniProt Annotations

Entry Information
Gene NameGDP-mannose pyrophosphorylase B
Protein EntryGMPPB_HUMAN
UniProt IDQ9Y5P6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y5P6-1; Sequence=Displayed; Name=2; IsoId=Q9Y5P6-2; Sequence=VSP_028619;
Catalytic ActivityGTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose.
DiseaseMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. {ECO:0000269|PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMuscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. {ECO:0000269|PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMuscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. {ECO:0000269|PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayNucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1.
SimilarityBelongs to the transferase hexapeptide repeat family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:23768512}.
SubunitAssociates with GMPPA. {ECO:0000250}.
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