ACADM
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ACADM (acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain) is a
These fatty acids are found in foods such as milk and certain oils, and they are also stored in the body's fat tissue. Medium-chain fatty acids are also produced when larger fatty acids are degraded.
The acyl-coenzyme A dehydrogenase for medium-chain fatty acids (ACADM) enzyme is essential for converting these particular fatty acids to energy, especially during periods without food (fasting). The ACADM enzyme functions in mitochondria, the energy-producing centers within cells. It is found in the
The ACADM gene is located on the short (p) arm of
Structure
The protein encoded by the ACADM gene is ~47 kDa in size, and composed of 421 amino acids.[5]
Function
The LCAD enzyme catalyzes most of fatty acid beta-oxidation by forming a C2-C3 trans-double bond in the fatty acid. MCAD works on long-chain fatty acids, typically between C4 and C12-acylCoA.[6] Fatty acid oxidation has proven to spare glucose in fasting conditions, and is also required for amino acid metabolism, which is essential for the maintenance of adequate glucose production.[7] Furthermore, MCAD participates in fatty acid metabolism and PPAR signaling pathway.[8]
Clinical significance
With a shortage (deficiency) of functional ACADM enzyme, medium-chain fatty acids cannot be degraded and processed. As a result, these fats are not converted into energy, which can lead to characteristic symptoms of this disorder, such as lack of energy (lethargy) and low blood sugar. Levels of medium-chain fatty acids or partially degraded fatty acids may build up in tissues and can damage the liver and brain, causing more serious complications.[11]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000117054 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062908 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "ACADM – Medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor – Homo sapiens (Human) – ACADM gene & protein". www.uniprot.org.
- PMID 3462713.
- PMID 24591516.
- S2CID 232300877.
- )
- S2CID 9687627.
- PMID 23028790.
Further reading
- Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P (Sep 2001). "Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship". Human Mutation. 18 (3): 169–89. S2CID 22616789.
- Wang SS, Fernhoff PM, Hannon WH, Khoury MJ (1999). "Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review". Genetics in Medicine. 1 (7): 332–9. PMID 11263545.
External links
- GeneReviews/NIH/NCBI/UW entry on Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
- GeneCard
- ACADM at The GDB Human Genome Database
- Human ACADM genome location and ACADM gene details page in the UCSC Genome Browser.