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

BRENDA support

Literature summary for 1.2.4.4 extracted from

  • Wynn, R.M.; Davie, J.R.; Chuang, J.L.; Cote, C.D.; Chuang, D.T.
    Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease (1998), J. Biol. Chem., 273, 13110-13118.
    View publication on PubMed

Activating Compound

Activating Compound Comment Organism Structure
thiamine diphosphate
-
Homo sapiens

Protein Variants

Protein Variants Comment Organism
F364C E1alpha-missense mutation in type IA maple syrup urine disease that causes the occurence of exclusively alpha,beta dimers Homo sapiens
T265R missense mutation in type IA maple syrup urine disease that causes the occurence of both alpha2beta2 tetramers and lower molecular weight species Homo sapiens
Y368C missense mutation in type IA maple syrup urine disease that causes the occurence of both alpha2beta2 tetramers and lower molecular weight species Homo sapiens
Y393N E1alpha-missense mutation in type IA maple syrup urine disease that causes the occurence of exclusively alpha,beta dimers Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
37500
-
alpha2,beta2, 2 * 45500 + 2 * 37500, wild-type enzyme, SDS-PAGE Homo sapiens
45500
-
alpha2,beta2, 2 * 45500 + 2 * 37500, wild-type enzyme, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens patients with type IA maple syrup urine disease show missense mutations in the E1 alpha-subunit resulting in the loss of E1 and branched-chain ketoacid dehydrogenase activity ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information patients with type IA maple syrup urine disease show missense mutations in the E1 alpha-subunit resulting in the loss of E1 and branched-chain ketoacid dehydrogenase activity Homo sapiens ?
-
?

Subunits

Subunits Comment Organism
More Y368C-alpha and T265R-alpha: missense mutation that cause the occurence of both alpha2beta2 tetramers and lower molecular weight species Homo sapiens
More Y393N-alpha and F364C-alpha: E1alpha-missense mutation that causes the occurence of exclusively alpha,beta dimers Homo sapiens
tetramer alpha2,beta2, 2 * 45500 + 2 * 37500, wild-type enzyme, SDS-PAGE Homo sapiens

Cofactor

Cofactor Comment Organism Structure
CoA
-
Homo sapiens
NAD+
-
Homo sapiens