Description: Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_000017): This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]. Transcript (Including UTRs) Position: hg19 chr12:121,163,571-121,177,811 Size: 14,241 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr12:121,163,689-121,177,251 Size: 13,563 Coding Exon Count: 10
ID:ACADS_HUMAN DESCRIPTION: RecName: Full=Short-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=SCAD; EC=1.3.8.1; AltName: Full=Butyryl-CoA dehydrogenase; Flags: Precursor; CATALYTIC ACTIVITY: Butanoyl-CoA + electron-transfer flavoprotein = 2-butenoyl-CoA + reduced electron-transfer flavoprotein. COFACTOR: FAD. PATHWAY: Lipid metabolism; mitochondrial fatty acid beta- oxidation. SUBUNIT: Homotetramer. SUBCELLULAR LOCATION: Mitochondrion matrix. DISEASE: Defects in ACADS are the cause of acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]. It is an autosomal recessive disorder resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults. MISCELLANEOUS: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. SIMILARITY: Belongs to the acyl-CoA dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADS"; WEB RESOURCE: Name=Wikipedia; Note=Butyryl-CoA dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Butyryl_CoA_dehydrogenase";
medium-chain acyl-CoA dehydrogenase deficiency Maldegem, B. T. et al. 2005, The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots., Journal of inherited metabolic disease. 2005 ;28(4):557-62.
[PubMed 15902559]
Our study demonstrates a high frequency of the 625G>A SCAD gene variant in the Dutch population, but no correlation to significantly increased C(4)-carnitine levels in blood spots taken between the 5th and 8th days of life. This latter observation might be the result of the relatively late timing of neonatal screening in our country, implying that fatty acid oxidation disorders may be missed at that stage. If the 625G>A variant is associated with clinical SCAD deficiency, the high frequency of the variant suggests a possible involvement of SCAD deficiency in the pathogenesis of common disorders, probably in relation to other genetic and/or environmental factors. However, homozygosity for the 625G>A variant might be only a biochemical phenomenon, representing a 'nondisease'.
Nonalcoholic Fatty Liver Disease Thomas Illig et al. Nature genetics 2010, A genome-wide perspective of genetic variation in human metabolism., Nature genetics.
[PubMed 20037589]
serum metabolites Illig ,et al. 2009, A genome-wide perspective of genetic variation in human metabolism, Nature genetics 2010 42- 2 : 137-41.
[PubMed 20037589]
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 P16219
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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
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
