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Literature summary for 1.1.1.135 extracted from

  • Ofman, R.; Ruiter, J.P.; Feenstra, M.; Duran, M.; Poll-The, B.T.; Zschocke, J.; Ensenauer, R.; Lehnert, W.; Sass, J.O.; Sperl, W.; Wanders, R.J.
    2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene (2003), Am. J. Hum. Genet., 72, 1300-1307.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine L122C and R130C are missence mutations found in patients with inborn error of isoleucine degradation, almost complete loss of enzyme activity Homo sapiens

Protein Variants

Protein Variants Comment Organism
L122C missence mutation found in patient with inborn error of isoleucine degradation, almost complete loss of enzyme activity Homo sapiens
R130C missence mutation found in patient with inborn error of isoleucine degradation, almost complete loss of enzyme activity Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
28000
-
x * 28000, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Bos taurus O02691 enzyme is identical to 3-hydroxyacyl-CoA dehydrogenase type II
-
Homo sapiens Q99714
-
-

Purification (Commentary)

Purification (Comment) Organism
-
Bos taurus

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast cultured skin fibroblast Homo sapiens
-
liver
-
Bos taurus
-

Subunits

Subunits Comment Organism
? x * 28000, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
HADH2
-
Homo sapiens