Literature summary for 4.1.1.9 extracted from

Gao, J.; Waber, L.; Bennett, M.J.; Gibson, K.M.; Cohen, J.C.
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase (1999), J. Lipid Res., 40, 178-182.

Search for more literature for 4.1.1.9

Application

Application	Comment	Organism
medicine	enzyme deficiency is associated with mild mental retardation, seizures, hypotonia, cardiomyopathie, vomiting, hypoglycemia, metabolic acidosis and malonic aciduria	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in the human hepatoma cell line huh7, sequencing, located on chromosome 16q24	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	genetic mutation causing malonic aciduria: a four nucleotide deletion at the 3-end of exon 2 of the gene, c.638-641delGTGA, that introduces a premature stop codon and deletes the 272 carboxy terminal amino acids of the protein	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	enzyme may be targeted to mitochondria in addition to, or possibly instead of, peroxisomes	Homo sapiens	5739	-
peroxisome	enzyme may be targeted to peroxisomes in addition to, or possibly instead of, mitochondria	Homo sapiens	5777	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
Malonyl-CoA	Homo sapiens	-	Acetyl-CoA + CO2	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	male, normal and with malonic aciduria	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
Malonyl-CoA	-	Homo sapiens	Acetyl-CoA + CO2	-	?

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Release 2023.1 (January 2023)