GDP-mannose pyrophosphorylase B
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.
Covered on Genetics Home Reference:
From NCBI Gene:
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14): 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. [MIM:615351]
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14): 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. [MIM:615350]
Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14): 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. [MIM:615352]