ACADM 3473513 215502261 2008-05-28T14:08:56Z DOI bot 6652755 Citation maintenance. You can [[WP:DOI|use this bot]] yourself! Please [[User:DOI_bot/bugs|report any bugs]]. {{protein |Name=acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain |caption= |image= |width= |HGNCid=89 |Symbol=ACADM |AltSymbols= |EntrezGene=34 |OMIM=607008 |RefSeq=NM_000016 |UniProt=P11310 |PDB= |ECnumber=1.3.99.3 |Chromosome=1 |Arm=p |Band=31 |LocusSupplementaryData= }} '''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 acid]]s. These [[fatty acid]]s are found in foods such as [[milk]] and certain [[oil]]s, 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 (human)|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 [[mutation]]s 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== * {{cite journal | author=Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P | title=Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship | journal=Hum Mutat | year=2001 | pages=169–89 | volume=18 | issue=3 | doi=10.1002/humu.1174 }} PMID 11524729 * {{cite journal | author=Wang SS, Fernhoff PM, Hannon WH, Khoury MJ | title=Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review | journal=Genet Med | year=1999 | pages=332–9 | volume=1 | issue=7 }} PMID 11263545 ==External links== * [http://www.genecards.org/cgi-bin/carddisp?ACADM GeneCard] *[http://www.gdb.org/gdb-bin/genera/genera/hgd/GenomicSegment?!action=query&displayName=acadm ACADM at The GDB Human Genome Database] {{Lipid metabolism enzymes}} [[Category:Genes]]