Human Gene ACADM (ENST00000370841.9) from GENCODE V44
Description: Homo sapiens acyl-CoA dehydrogenase medium chain (ACADM), transcript variant 4, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001286042) RefSeq Summary (NM_000016): This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000370841.9 Gencode Gene: ENSG00000117054.15 Transcript (Including UTRs) Position: hg38 chr1:75,724,709-75,763,679 Size: 38,971 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr1:75,724,788-75,762,763 Size: 37,976 Coding Exon Count: 12
ID:ACADM_HUMAN DESCRIPTION: RecName: Full=Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=MCAD; EC=1.3.8.7; Flags: Precursor; FUNCTION: This enzyme is specific for acyl chain lengths of 4 to 16. CATALYTIC ACTIVITY: A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein. COFACTOR: FAD. PATHWAY: Lipid metabolism; mitochondrial fatty acid beta- oxidation. SUBUNIT: Homotetramer. Interacts with the heterodimeric electron transfer flavoprotein ETF. SUBCELLULAR LOCATION: Mitochondrion matrix. DISEASE: Defects in ACADM are the cause of acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]. It is an autosomal recessive disease which causes fasting hypoglycemia, hepatic dysfunction, and encephalopathy, often resulting in death in infancy. MISCELLANEOUS: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. MISCELLANEOUS: Utilizes the electron transfer flavoprotein (ETF) as electron acceptor that transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). SIMILARITY: Belongs to the acyl-CoA dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADM";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11310
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
