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Literature summary for 1.3.8.1 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
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Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
R83C the mutant enzyme does not form tetramers and is inactive Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 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 wild type enzyme Homo sapiens

Synonyms

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