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SFC-36551 | D-(+)-Melibiose
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A disaccharide consisting of one galactose and one glucose moiety in an alpha (1-6) glycosidic linkage.
Review. The GLA gene has been cloned and more than 200 mutations have been identified.
Studies further define the molecular heterogeneity of the alpha-Gal A mutations in classical Fabry disease, permit precise heterozygote detection and prenatal diagnosis.
62 Fabry patients in Japan were examined and 24 GLA mutations were found, including 11 novel ones.
the active sites of human lysosomal enzymes alpha-galactosidase and alpha-N-acetylgalactosaminidase have interconvertible specificites
Observational study of gene-disease association. (HuGE Navigator)
Data suggest that insufficient alpha-galactosidase A activity may contribute to the pathogenesis of sporadic Parkinson's disease.
Recent molecular studies of GLA have demonstrated the existence of atypical variants in Fabry disease, suggesting significant genotype-phenotype correlations.
Data inhicate that patients with alpha-galactosidase A (GLA) gene c.614delC mutation show classical clinical manifestations of Fabry disease (FD).
residues important for expression of the GLA activity
Thus, inheritance of the CIH caused an mRNA deregulation altering the GLA expression pattern, producing a tissue glycolipid storage.
Gene ontology - Biological process
glycosphingolipid metabolic process
negative regulation of nitric-oxide synthase activity
negative regulation of nitric oxide biosynthetic process
oligosaccharide metabolic process
glycoside catabolic process
glycosylceramide catabolic process
glycosphingolipid catabolic process
Gene ontology - Cellular component
azurophil granule lumen
Gene ontology - Molecular function
protein homodimerization activity
raffinose alpha-galactosidase activity
Glycoside hydrolase superfamily
Aldolase-type TIM barrel
Glycoside hydrolase, family 27
Glycosyl hydrolase, all-beta
Glycoside hydrolase family 27/36, conserved site
Lysosome - Homo sapiens (human)
Glycerolipid metabolism - Homo sapiens (human)
Galactose metabolism - Homo sapiens (human)
Sphingolipid metabolism - Homo sapiens (human)
Glycosphingolipid biosynthesis - globo and isoglobo series - Homo sapiens (human)
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