- Catalog number
- A02383-3
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- 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.
- Synonyms
- DCC-interacting protein 13-alpha; Dip13-alpha; Adapter protein containing PH domain, PTB domain and leucine zipper motif 1; APPL1; APPL, DIP13A, KIAA1428
- Gene Name
- ACADM
- Gene ID
- 34
- UniProt
- P11310
- Host
- Rabbit
- Reactivity
- Human, Mouse, Rat
- Cross Reactivity
- No cross-reactivity with other proteins
- Immunogen
- E.coli-derived human ACADM/MCAD recombinant protein (Position: S38-E401) .
- Clonality
- Polyclonal
- Tissue Specificity
- High levels in heart, ovary, pancreas and skeletal muscle.
- Applications
- WB, IHC, ICC, IF, Flow Cytometry, ELISA
- Field of Research
- Calcium Binding Proteins, Calcium Signaling, Neuroscience, Neurotransmission
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Function
- 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) .
- References & Citations
- 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.
- Storage Conditions
- At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.
- Calculated Molecular Weight
- 15126 MW
- Observed Molecular Weight
- 47 kDa
- Applications Notes
- 6
- Gene Name Synonym
- Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
- Subcellular Location
- Nucleus; Early endosome membrane; Peripheral membrane protein; Endosome; Cytoplasm; ruffle; phagosome
- Protein Name
- Fatty acid-binding protein, intestinal
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.
