Gene Symbol | GMPPB |
Entrez Gene ID | 29925 |
Full Name | GDP-mannose pyrophosphorylase B |
Synonyms | MDDGA14,MDDGB14,MDDGC14 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3) |