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Literature summary extracted from

  • Tein, I.; Elpeleg, O.; Ben-Zeev, B.; Korman, S.H.; Lossos, A.; Lev, D.; Lerman-Sagie, T.; Leshinsky-Silver, E.; Vockley, J.; Berry, G.T.; Lamhonwah, A.M.; Matern, D.; Roe, C.R.; Gregersen, N.
    Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin (2008), Mol. Genet. Metab., 93, 179-189.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.8.1 expressed in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.1 R83C the mutant enzyme does not form tetramers and is inactive 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
-
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Subunits

EC Number Subunits Comment Organism
1.3.8.1 tetramer wild type enzyme Homo sapiens

Synonyms

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