|Application ||WB, IHC, E|
|Other Accession||NP_001120800, 34|
|Calculated MW||46588 Da|
|Other Names||Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, MCAD, 220.127.116.11, ACADM|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-ACADM Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||This enzyme is specific for acyl chain lengths of 4 to 16.|
|Cellular Location||Mitochondrion matrix.|
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Provided below are standard protocols that you may find useful for product applications.
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.
Variation at the NFATC2 Locus Increases the Risk of Thiazolinedinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study. Bailey SD, et al. Diabetes Care, 2010 Jul 13. PMID 20628086.
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. Al-Hassnan ZN, et al. J Inherit Metab Dis, 2010 Jun 22. PMID 20567907.
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Smith EH, et al. Mol Genet Metab, 2010 Jul. PMID 20434380.
A genome-wide perspective of genetic variation in human metabolism. Illig T, et al. Nat Genet, 2010 Feb. PMID 20037589.
Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121.
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