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Literature summary for 1.4.4.2 extracted from

  • Dinopoulos, A.; Kure, S.; Chuck, G.; Sato, K.; Gilbert, D.L.; Matsubara, Y.; Degrauw, T.
    Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults (2005), Neurology, 64, 1255-1257.
    View publication on PubMed
Search for more literature for 1.4.4.2

Application

Application Comment Organism
medicine mutations of the glycine decarboxylase gene are found in patients with nonketotic hyperglycinemia, NKH Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
missense mutations expressed in COS7 cells Homo sapiens
two identified mutations, A389V and R739V, are introduced into the pEUK-(N) expression vector pEUK-(C1) carrying human glycine decarboxylase complementary DNA for expression in COS7 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
A389V missense mutation, 6-8% of normal GLDC activity when expressed in COS7 cells Homo sapiens
R739H missense mutation, 6-8% of normal GLDC activity when expressed in COS7 cells Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
glycine + H-protein-lipoyllysine Homo sapiens
-
 H-protein-S-aminomethyldihydrolipoyllysine + CO2
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens
-
 adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 mutations have a 6 to 8% of normal glycine decarboxylase activities when expressed in COS7 cells Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
glycine + H-protein-lipoyllysine
-
 Homo sapiens H-protein-S-aminomethyldihydrolipoyllysine + CO2
-
 ?

Synonyms

Synonyms Comment Organism
GLDC
-
 Homo sapiens
glycine decarboxylase
-
 Homo sapiens
glycine dehydrogenase
-
 Homo sapiens