Mouse anti-Human GMPPB monoclonal antibody for WB, IHC, sELISA, ELISA
GMPPB (GDP-Mannose Pyrophosphorylase B) is a Protein Coding gene. Diseases associated with GMPPB include muscular dystrophy-dystroglycanopathy, type c, 14 and muscular dystrophy-dystroglycanopathy, type a, 14. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include GTP binding and mannose-1-phosphate guanylyltransferase activity. An important paralog of this gene is GMPPA. 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.
Muscular 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Muscular 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. Muscular 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. Mannose-1-phosphate guanyltransferase beta is an enzyme that in humans is encoded by the GMPPB gene. 0The function about GMPPB antigen include GTP binding; mannose-1-phosphate guanylyltransferase activity; nucleotide binding; nucleotidyltransferase activity; transferase activity.
Amino sugar and nucleotide sugar metabolism, organism-specific biosystem; Amino sugar and nucleotide sugar metabolism, conserved biosystem; Asparagine N-linked glycosylation, organism-specific biosystem; Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystem; Fructose and mannose metabolism, organism-specific biosystem; Fructose and mannose metabolism, conserved biosystem; Metabolic pathways, organism-spe.
Carss, KJ; Stevens, E; et al. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. AMERICAN JOURNAL OF HUMAN GENETICS 93:29-41(2013).
Janik, A; Sosnowska, M; et al. Overexpression of GDP-mannose pyrophosphorylase in Saccharomyces cerevisiae corrects defects in dolichol-linked saccharide formation and protein glycosylation. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS 1621:22-30(2003).
Custom Antibody Labeling
We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody.