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AMT encodes one of four critical components of the glycine cleavage system.
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The position and frequency of the breakpoint for CNVs correlated with intron size and presence of Alu elements. Missense mutations, most often recurring, were the most common type of disease-causing mutation in AMT
Data indicate no mutation was found in glycine cleavage system protein-H (show GCSH ELISA Kits) (GCSH (show GCSH ELISA Kits)) and suggest that mutations in both glycine decarboxylase (GLDC (show GLDC ELISA Kits)) and aminomethyltransferase (AMT) are the main cause of glycine encephalopathy in Malaysian population.
Two unique non-synonymous changes were identified in the AMT gene in patients with neural tube defects.
This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene.
aminomethyltransferase (glycine cleavage system protein T)
, aminomethyltransferase, mitochondrial
, glycine cleavage system T protein
, glycine cleavage system protein T
, glycine cleavage system T-protein