Literature summary for 1.3.8.7 extracted from

Nichols, M.J.; Saavedra-Matiz, C.A.; Pass, K.A.; Caggana, M.
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population (2008), Am. J. Med. Genet. A, 146A, 610-619.

Search for more literature for 1.3.8.7

Protein Variants

Protein Variants	Comment	Organism
A151T	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
A31P	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
D79X	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
E18K	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
G170R	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
G285R	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
K304E	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
L59F	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
L73DELTA	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
N169D	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
P128X	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
Q20R	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
R123K	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
R256S	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
T92T	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
T96I	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
V362V	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens
Y42H	the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
acyl-CoA + acceptor	-	Homo sapiens	2,3-dehydroacyl-CoA + reduced acceptor	-	?

Synonyms

Synonyms	Comment	Organism
MCAD	-	Homo sapiens
medium chain acyl-CoA dehydrogenase	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)