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Literature summary for 1.3.8.1 extracted from

  • Pedersen, C.B.; Kolvraa, S.; Kolvraa, A.; Stenbroen, V.; Kjeldsen, M.; Ensenauer, R.; Tein, I.; Matern, D.; Rinaldo, P.; Vianey-Saban, C.; Ribes, A.; Lehnert, W.; Christensen, E.; Corydon, T.J.; Andresen, B.S.; Vang, S.; Bolund, L.; Vockley, J.; Bross, P.; Gregersen, N.
    The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level (2008), Hum. Genet., 124, 43-56.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
G209S mutant shows a temperature-dependent production of SCAD tetramers with reduced amounts compared to the wild type enzyme Homo sapiens
R171W mutant shows a temperature-dependent production of SCAD tetramers with reduced amounts compared to the wild type enzyme Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-
muscle
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
butyryl-CoA + electron transfer flavoprotein
-
Homo sapiens 2-butenoyl-CoA + reduced electron transfer flavoprotein
-
?

Subunits

Subunits Comment Organism
tetramer
-
Homo sapiens

Synonyms

Synonyms Comment Organism
SCAD
-
Homo sapiens
short-chain acyl-CoA dehydrogenase
-
Homo sapiens