Anti-ACADS/SCAD Antibody Picoband® Fluoro647 Conjugated

Acyl-CoA dehydrogenase, C-2 to C-3 short chain is an enzyme that in humans is encoded by the ACADS gene. 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.

Mainly expressed in brain although also detected in other tissues like heart and skeletal muscle. Isoform 1 and isoform 2 are specifically expressed in neuronal tissues. Isoform 3 and isoform 4 are expressed in non-neuronal tissues. Isoform 5 and isoform 6 are truncated forms expressed in non-neuronal tissues.

1. Corydon, M. J., Andresen, B. S., Bross, P., Kjeldsen, M., Andreasen, P. H., Eiberg, H., Kolvraa, S., Gregersen, N. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. Mammalian Genome 8: 922-926, 1997. 2. Corydon, M. J., Vockley, J., Rinaldo, P., Rhead, W. J., Kjeldsen, M., Winter, V., Riggs, C., Babovic-Vuksanovic, D., Smeitink, J., De Jong, J., Levy, H., Sewell, A. C., Roe, C., Matern, D., Dasouki, M., Gregersen, N. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediat. Res. 49: 18-23, 2001. 3. Gregersen, N., Winter, V. S., Corydon, M. J., Corydon, T. J., Rinaldo, P., Ribes, A., Martinez, G., Bennett, M. J., Vianey-Saban, C., Bhala, A., Hale, D. E., Lehnert, W., Kmoch, S., Roig, M., Riudor, E., Eiberg, H., Andresen, B. S., Bross, P., Bolund, L. A., Kolvraa, S. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-A, together conferring susceptibility to ethylmalonic aciduria. Hum. Molec. Genet. 7: 619-627, 1998.