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Literature summary extracted from

  • Schmidt, S.P.; Corydon, T.J.; Pedersen, C.B.; Vang, S.; Palmfeldt, J.; Stenbroen, V.; Wanders, R.J.; Ruiter, J.P.; Gregersen, N.
    Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase (2011), J. Inherit. Metab. Dis., 34, 465-475.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.8.1 gene ASCAD, expression analysis of wild-type and mutant R107C enzymes in A-172 cells and transfected Mus musculus GP+E86 cells, phenotypes, overview Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.1 R107C naturally occuring mutation, development of a cell model system, stably expressing either the SCAD wild-type protein or the misfolding SCAD variant protein, R107C, genotype C319T. The model system is used for investigation of SCAD with respect to expression, degree of misfolding, and enzymatic SCAD activity Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.3.8.1 mitochondrion
-
 Homo sapiens 5739
-

Organism

EC Number Organism UniProt Comment Textmining
1.3.8.1 Homo sapiens
-
 gene ACADS
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.8.1 astrocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.8.1 butanoyl-CoA + FAD
-
 Homo sapiens trans-2,3-dehydrobutanoyl-CoA + FADH2
-
 ?

Subunits

EC Number Subunits Comment Organism
1.3.8.1 tetramer
-
 Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
1.3.8.1 SCAD
-
 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
1.3.8.1 37
-
 assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
1.3.8.1 8
-
 assay at Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.3.8.1 FAD
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.3.8.1 malfunction expression of the R107C mutant variant SCAD protein gives rise to inactive misfolded protein species, eliciting a mild toxic response manifested though a decreased proliferation rate and oxidative stress, as shown by an increased demand for the mitochondrial antioxidant SOD2, occurance of increased markers of apoptotic activity in the mutant protein expressing cells. Development of a cell model system, stably expressing either the SCAD wild-type protein or the misfolding SCAD variant protein, R107C, genotype C319T. The model system is used for investigation of SCAD with respect to expression, degree of misfolding, and enzymatic SCAD activity, overview Homo sapiens