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Literature summary for 1.3.8.7 extracted from

  • Sturm, M.; Herebian, D.; Mueller, M.; Laryea, M.D.; Spiekerkoetter, U.
    Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants (2012), PLoS ONE, 7, e45110.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
gene ACADM, DNA and amino acid sequence determination and analysis Homo sapiens

Protein Variants

Protein Variants Comment Organism
A1010C genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency Homo sapiens
A533C genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency Homo sapiens
A985G genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency, phenotype, overview Homo sapiens
G127A genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency, not clearly associated with a clinical phenotype Homo sapiens
G799A genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency Homo sapiens
T1229G genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency Homo sapiens
T199C genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency, not clearly associated with a clinical phenotype Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
gene ACADM
-

Synonyms

Synonyms Comment Organism
MCAD
-
Homo sapiens

General Information

General Information Comment Organism
malfunction medium-chain acyl-CoA dehydrogenase deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism, genotyping and phenotypes, overview. Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants Homo sapiens