Literature summary for 1.3.8.7 extracted from

Koster, K.L.; Sturm, M.; Herebian, D.; Smits, S.H.; Spiekerkoetter, U.
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants (2014), J. Inherit. Metab. Dis., 37, 917-928 .

Search for more literature for 1.3.8.7

Application

Application	Comment	Organism
medicine	cloning and functional characterization of mutations with unknown clinical relevance identified in asymptomatic newborns. Eighteen of these mutations were separately cloned into the human ACADM and functionally characterized	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in Escherichia coli	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A293E	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
D221N	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
D320Y	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
delT125, E126	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
E18K	about 47% residual octanoyl-CoA oxidation activity	Homo sapiens
F194S	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
G242R	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
I208T	about 5% residual octanoyl-CoA oxidation activity	Homo sapiens
K153T	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
K276X	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
K304E	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
M303V	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
N354K	about 8% residual octanoyl-CoA oxidation activity	Homo sapiens
R6H	about 45% residual octanoyl-CoA oxidation activity	Homo sapiens
V247A	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
Y312S	about 8% residual octanoyl-CoA oxidation activity	Homo sapiens
Y394X	less than 5% residual octanoyl-CoA oxidation activity	Homo sapiens
Y42H	about 22% residual octanoyl-CoA oxidation activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P11310	-	-

Temperature Stability [°C]

Temperature Stability Minimum [°C]	Temperature Stability Maximum [°C]	Comment	Organism
37	-	60 min, bout 20% resudal activity	Homo sapiens
41	-	30 min, bout 20% resudal activity	Homo sapiens

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Release 2023.1 (January 2023)