Literature summary for 2.1.2.10 extracted from

Swanson, M.A.; Garcia, S.M.; Spector, E.; Kronquist, K.; Creadon-Swindell, G.; Walter, M.; Christensen, E.; Van Hove, J.L.K.; Sass, J.O.
D-Glyceric aciduria does not cause nonketotic hyperglycinemia a historic co-occurrence (2017), Mol. Genet. Metab., 121, 80-82 .

Cloned(Commentary)

Cloned (Comment)	Organism
gene AMT, located on chromosome 3p21.3, DNA and amino acid sequence determination and analysis. The AMT gene is located on chromosome 3p21.3 and the GLYCTK gene on 3p21.1. The possibility of a microdeletion is considered given the homozygosity for a mutation in both genes in a non-consanguineous family, but a comparative microarray does not identify a copy number variation in any exon of either gene	Homo sapiens

Cloned (Comment)

Organism

gene AMT, located on chromosome 3p21.3, DNA and amino acid sequence determination and analysis. The AMT gene is located on chromosome 3p21.3 and the GLYCTK gene on 3p21.1. The possibility of a microdeletion is considered given the homozygosity for a mutation in both genes in a non-consanguineous family, but a comparative microarray does not identify a copy number variation in any exon of either gene

Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
F483S	naturally occuring mutation that causes D-glyceric aciduria	Homo sapiens
R320H	naturally occuring mutation that causes D-glyceric aciduria, the mutant enzyme shows 13% activity compared to wild-type. The expression of the p.Arg320Hisu mutant shows a low residual enzyme activity of the glycine cleavage enzyme similar to that of the mock control. The p.Arg320His is included as the most common AMT mutation observed in NKH patients and when homozygous, is always observed in a severe phenotype	Homo sapiens
S117L	naturally occuring mutation, a very rare homozygous missense mutation in AMT c.350CNT, that causes D-glyceric aciduria, but no evidence is found that D-glyceric aciduria would cause nonketotic hyperglycinemia (NKH) as a secondary phenomenon. The mutant enzyme shows 9% activity compared to wild-type. The expression of the p.Ser117Leu mutant shows a low residual enzyme activity of the glycine cleavage enzyme similar to that of the mock control	Homo sapiens

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Mg2+	required	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
[protein]-S8-aminomethyldihydrolipoyllysine + tetrahydrofolate	Homo sapiens	-	[protein]-dihydrolipoyllysine + 5,10-methylenetetrahydrofolate + NH3	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P48728	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
[protein]-S8-aminomethyldihydrolipoyllysine + tetrahydrofolate	-	Homo sapiens	[protein]-dihydrolipoyllysine + 5,10-methylenetetrahydrofolate + NH3	-	?

Synonyms

Synonyms	Comment	Organism
Amt	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	mutations S117L and R320H cause nonketotic hyperglycinemia (NKH). Analysis of mutations in the GLYCTK gene (encoding D-glycerate kinase, EC 2.7.1.165) causing glyceric aciduria. D-glyceric aciduria causes a blockage to the glycine cleavage enzyme system (GCS). The mutation S117L, a homozygous missense mutation in AMT c.350CNT, causes NKH, but no evidence is found that D-glyceric aciduria would cause nonketotic hyperglycinemia (NKH) as a secondary phenomenon. The p.Arg320His is included as the most common AMT mutation observed in NKH patients and when homozygous, is always observed in a severe phenotype	Homo sapiens