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GMPPB is thought to encode a GDP-mannose pyrophosphorylase. Additionally we are shipping GDP-Mannose Pyrophosphorylase B Antibodies (43) and GDP-Mannose Pyrophosphorylase B Proteins (7) and many more products for this protein.
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