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Literature summary for 1.3.8.1 extracted from

  • Schmidt, S.P.; Corydon, T.J.; Pedersen, C.B.; Bross, P.; Gregersen, N.
    Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress (2010), Mol. Genet. Metab., 100, 155-162.
    View publication on PubMed
Search for more literature for 1.3.8.1

Cloned(Commentary)

Cloned (Comment) Organism
expression of mutant R83C in wild-type astrocytes Homo sapiens

Protein Variants

Protein Variants Comment Organism
R83C a naturally occuring mutation, c.319C>T, of SCAD involved in SCAD deficiency, SCADD 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
astrocyte
-
 Homo sapiens
-
SVGp12 cell an astrocyte cell line Homo sapiens
-

Synonyms

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

General Information

General Information Comment Organism
additional information SCAD misfolding leads to production of reactive oxygen species, which in turn leads to fission and a grain-like structure of the mitochondrial reticulum, indicating a toxic response elicited by misfolded R83C SCAD proteins, detailed overview Homo sapiens