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Literature summary 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)

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

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.7 A1010C genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 A533C genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 A985G genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency, phenotype, overview Homo sapiens
1.3.8.7 G127A genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency, not clearly associated with a clinical phenotype Homo sapiens
1.3.8.7 G799A genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 T1229G genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 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

EC Number Organism UniProt Comment Textmining
1.3.8.7 Homo sapiens
-
 gene ACADM
-

Synonyms

EC Number Synonyms Comment Organism
1.3.8.7 MCAD
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.3.8.7 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