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Buy Wholesale and maintain an Active status for 2 months and we will refund your $39 Distributor Fee
11-SEPTEMBER-2008 13:54:10 - ACADM acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain Identifiers Symbol ACADM Entrez 34 HUGO 89 OMIM 607008 RefSeq NM_000016 UniProt P11310 Other data EC number 1.3.99.3 Locus Chr. 1 p31 ACADM acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain is a gene that provides instructions for making an enzyme called acyl-coenzyme A dehydrogenase that is important for breaking down degrading a certain group of fats called medium-chain fatty acids. 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 mitochondria of several types of tissues, particularly the liver. The ACADM gene is located on the short p arm of chromosome 1 at position 31, from base pair 75,902,302 to base pair 75,941,203. Related conditions Medium-chain acyl-coenzyme A dehydrogenase deficiency can be caused by mutations in the ACADM gene. More than 30 ACADM gene mutations that cause medium-chain acyl-coenzyme A dehydrogenase deficiency have been identified. Many of these mutations switch an amino acid building block in the ACADM enzyme. The most common amino acid substitution replaces lysine with glutamic acid at position 304 in the enzyme's chain of amino acids also written as Lys304Glu or K304E. This mutation and other amino acid substitutions alter the enzyme's structure, reducing or abolishing its activity. Other mutations delete or duplicate part of the ACADM gene, which leads to an unstable enzyme that cannot function. 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. References Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P 2001. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 18 3: 169-89. doi:10.1002/humu.1174. PMID 11524729 Wang SS, Fernhoff PM, Hannon WH, Khoury MJ 1999. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med 1 7: 332-9. PMID 11263545 External links GeneCard ACADM at The GDB Human Genome Database v d e Metabolism: lipid metabolism - triglyceride and fatty acid enzymes Lipid production ATP citrate lyase - Acetyl-CoA carboxylase Fatty acid synthesis/Fatty acid synthase: Beta-ketoacyl-ACP synthase - Β-Ketoacyl ACP reductase - 3-Hydroxyacyl ACP dehydrase - Enoyl ACP reductase triacyl glycerol: Glycerol-3-phosphate dehydrogenase - Thiokinase Lipid degradation Acyl transport: Carnitine palmitoyltransferase I - Carnitine-acylcarnitine translocase - Carnitine palmitoyltransferase II Beta oxidation/Mitochondrial trifunctional protein: Acyl CoA dehydrogenase ACADL, ACADM, ACADS, ACADVL - Enoyl-CoA hydratase - 3-Hydroxyacyl CoA dehydrogenase - Acetyl-CoA C-acyltransferase to acetyl-CoA: Malonyl-CoA decarboxylase unsaturated Enoyl CoA isomerase, 2,4 Dienoyl-CoA reductase odd chain Propionyl-CoA carboxylase aldehydes Long-chain-aldehyde dehydrogenase see also disorders Retrieved from http://en..org/wiki/ACADM Categories: Genes on chromosome 1 | GenesHidden category: Protein pages needing a picture
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