Anti-ACADM/MCAD Antibody Picoband® Fluoro488 Conjugated

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. 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.

DCC-interacting protein 13-alpha; Dip13-alpha; Adapter protein containing PH domain, PTB domain and leucine zipper motif 1; APPL1; APPL, DIP13A, KIAA1428

Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:26073777, PubMed:19661063, PubMed:10490823) . Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378) . Functions as a positive regulator of innate immune response via activation of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity) . Inhibits Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages (By similarity) . Regulates TLR4 signaling in activated macrophages (By similarity) . Involved in trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432) . Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways (PubMed:26073777, PubMed:19661063, PubMed:24879834) . Required for fibroblast migration through HGF cell signaling (By similarity) . Positive regulator of beta-catenin/TCF-dependent transcription through interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865) .

1. Albers, S., Levy, H. L., Irons, M., Strauss, A. W., Marsden, D. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 24: 417-418, 2001. 2. Andresen, B. S., Bross, P., Udvari, S., Kirk, J., Gray, G., Kmoch, S., Chamoles, N., Knudsen, I., Winter, V., Wilcken, B., Yokota, I., Hart, K., Packman, S., Harpey, J. P., Saudubray, J. M., Hale, D. E., Bolund, L., Kolvraa, S., Gregersen, N. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum. Molec. Genet. 6: 695-707, 1997. 3. Andresen, B. S., Dobrowolski, S. F., O'Reilly, L., Muenzer, J., McCandless, S. E., Frazier, D. M., Udvari, S., Bross, P., Knudsen, I., Banas, R., Chace, D. H., Engel, P., Naylor, E. W., Gregersen, N. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am. J. Hum. Genet. 68: 1408-1418, 2001.