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

BRENDA support

Literature summary for 1.3.8.1 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)

Cloned (Comment) Organism
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

Protein Variants Comment Organism
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

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
gene ACADS
-

Source Tissue

Source Tissue Comment Organism Textmining
astrocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Subunits

Subunits Comment Organism
tetramer
-
Homo sapiens

Synonyms

Synonyms Comment Organism
SCAD
-
Homo sapiens

Temperature Optimum [°C]

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

pH Optimum

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

Cofactor

Cofactor Comment Organism Structure
FAD
-
Homo sapiens

General Information

General Information Comment Organism
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