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2.1.2.10: aminomethyltransferase

This is an abbreviated version!
For detailed information about aminomethyltransferase, go to the full flat file.

Word Map on EC 2.1.2.10

Reaction

[protein]-S8-aminomethyldihydrolipoyllysine
+
tetrahydrofolate
=
[protein]-dihydrolipoyllysine
+
5,10-methylenetetrahydrofolate
+
NH3

Synonyms

aminomethyltransferase, Amt, GCVT, glycine decarboxylase complex, glycine synthase, synthase, glycine, T protein, T-protein, T-protein component of glycine cleavage complex, tetrahydrofolate aminomethyltransferase

ECTree

     2 Transferases
         2.1 Transferring one-carbon groups
             2.1.2 Hydroxymethyl-, formyl- and related transferases
                2.1.2.10 aminomethyltransferase

Disease

Disease on EC 2.1.2.10 - aminomethyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Hyperglycinemia, Nonketotic
Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System.
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
Leukemia
Genomic organization of the dog dystroglycan gene DAG1 locus on chromosome 20q15.1-q15.2.
Leukemia, T-Cell
Genomic structures and sequences of two closely linked genes (AMT, TCTA) on dog chromosome 20q15.1-->q15.2.
Neoplasms
Proteomic analysis of the effect of retinoic acids on the human breast cancer cell line MCF-7.
Obesity
Obesity increases hepatic glycine dehydrogenase and aminomethyltransferase expression while dietary glycine supplementation reduces white adipose tissue in Zucker diabetic fatty rats.
Propionic Acidemia
Inhibition of glycine synthase by branched-chain alpha-keto acids. A possible mechanism for abnormal glycine metabolism in ketotic hyperglycinemia.
Vitamin B 12 Deficiency
The vitamin B12-deficient rat as a possible model of ketotic hyperglycinemia.