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GMPPB is thought to encode a GDP-mannose pyrophosphorylase. Additionally we are shipping GDP-Mannose Pyrophosphorylase B Antibodies (47) and GDP-Mannose Pyrophosphorylase B Proteins (7) and many more products for this protein.
Patients with GMPPB-CMS (show Cd2ap ELISA Kits) have phenotypic features aligned with CMS (show Cd2ap ELISA Kits) subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised Creatine Kinase levels and variable mild cognitive delay.
This study found mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases.
The phenotypic spectrum of GMPPB mutations was expanded to include limb-girdle muscular dystrophies.
Work confirms a role for GMPPB defects in alpha-dystroglycanopathy, and suggests that glycosylation may play a role in the neuronal membrane channels or networks involved in the physiology of generalized epilepsy syndromes.
Individuals with GMPPB mutations have hypoglycosylated alpha-dystroglycan in muscle. These mutations cause congenital and limb-girdle muscular dystrophies.
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.
GTP-mannose-1-phosphate guanylyltransferase beta
, mannose-1-phosphate guanyltransferase beta
, GDP-mannose pyrophosphorylase B-A
, GTP-mannose-1-phosphate guanylyltransferase beta-A
, mannose-1-phosphate guanyltransferase beta-A
, GDP-mannose pyrophosphorylase B
, mannose-1-phosphate guanyltransferase beta-like