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Acyl-CoA dehydrogenase
From Proteopedia
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== Disease == | == Disease == | ||
| - | Impairment of the activity of ACDH causes a variety of diseases associated with lack of fatty acid metabolism. MCAD mutations are associated with Sudden Infant Death and with Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD). For details see [[Investigating the Mechanisms of Active Site Mutations to the 1T9G WT MCAD Protein to Better Understand Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)]]. SCAD deficiency is a recessive disorder of fatty acid β-oxidation. | + | Impairment of the activity of ACDH causes a variety of diseases associated with lack of fatty acid metabolism. MCAD mutations are associated with Sudden Infant Death and with Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD)<ref>PMID:32809672</ref>. For details see [[Investigating the Mechanisms of Active Site Mutations to the 1T9G WT MCAD Protein to Better Understand Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)]]. SCAD deficiency is a recessive disorder of fatty acid β-oxidation. |
== Structural highlights == | == Structural highlights == | ||
Revision as of 08:50, 18 January 2024
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References
- ↑ Thorpe C, Kim JJ. Structure and mechanism of action of the acyl-CoA dehydrogenases. FASEB J. 1995 Jun;9(9):718-25. PMID:7601336
- ↑ Ibrahim SA, Temtem T. Medium-Chain Acyl-CoA Dehydrogenase Deficiency. PMID:32809672
- ↑ Battaile KP, Molin-Case J, Paschke R, Wang M, Bennett D, Vockley J, Kim JJ. Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases. J Biol Chem. 2002 Apr 5;277(14):12200-7. Epub 2002 Jan 25. PMID:11812788 doi:10.1074/jbc.M111296200
