Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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

Application

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

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.4.4.2 missense mutations expressed in COS7 cells Homo sapiens
1.4.4.2 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

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

Natural Substrates/ Products (Substrates)

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

Organism

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

Specific Activity [micromol/min/mg]

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

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
1.4.4.2 GLDC
-
 Homo sapiens
1.4.4.2 glycine decarboxylase
-
 Homo sapiens
1.4.4.2 glycine dehydrogenase
-
 Homo sapiens