Human ACAD8 protein

<strong>Human ACAD8 protein</strong>_x000D_ <strong>Catalog number:</strong> B2011052_x000D_ <strong>Lot number:</strong> Batch Dependent_x000D_ <strong>Expiration Date:</strong> Batch dependent_x000D_ <strong>Amount:</strong> 100 ug_x000D_ <strong>Molecular Weight or Concentration:</strong> 45.1 kDa_x000D_ <strong>Supplied as:</strong> Liquid_x000D_ <strong>Applications:</strong> molecular tool for various chemical, biochemical and immunological applications_x000D_ <strong>Storage:</strong> -20°C_x000D_ <strong>Keywords:</strong> ACAD-8 protein, ARC42 protein, Activator-recruited cofactor, Acyl-CoA dehydrogenase family member 8 protein, IBD protein, ACAD 8 protein, ACAD-8 protein_x000D_ <strong>Grade:</strong> Biotechnology grade. All products are highly pure. All solutions are made with Type I ultrapure water (resistivity &gt;18 MΩ-cm) and are filtered through 0.22 um._x000D_ _x000D_ <strong>References:</strong>_x000D_ 1: Feng J, Yang C, Zhu L, Zhang Y, Zhao X, Chen C, Chen QX, Shu Q, Jiang P, Tong F. Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8 Orphanet J Rare Dis. 2021 Sep 20;16(1):392._x000D_ 2: Lin Y, Peng W, Jiang M, Lin C, Lin W, Zheng Z, Li M, Fu Q. Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency Clin Chim Acta. 2018 Dec;487:133-138._x000D_ 3: Eleftheriadou M, Medici-van den Herik E, Stuurman K, van Bever Y, Hellebrekers DMEI, van Slegtenhorst M, Ruijter G, Barakat TS. Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report Mol Genet Genomic Med. 2021 Feb;9(2):e1595._x000D_ 4: Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79._x000D_ 5: Yun JW, Jo KI, Woo HI, Lee SY, Ki CS, Kim JW, Song J, Lee DH, Lee YW, Park HD. A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum Clin Genet. 2015 Feb;87(2):196-8._x000D_ 6: Hong MG, Karlsson R, Magnusson PK, Lewis MR, Isaacs W, Zheng LS, Xu J, Grönberg H, Ingelsson E, Pawitan Y, Broeckling C, Prenni JE, Wiklund F, Prince JA. A genome-wide assessment of variability in human serum metabolism Hum Mutat. 2013 Mar;34(3):515-24._x000D_ 7: Yoo EH, Cho HJ, Ki CS, Lee SY. Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening Clin Chem Lab Med. 2007;45(11):1495-7._x000D_ 8: Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, Witsch-Baumgartner M. Genotype-based databases for variants causing rare diseases Gene. 2014 Oct 15;550(1):136-40._x000D_ 9: Sass JO, Sander S, Zschocke J. Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants J Inherit Metab Dis. 2004;27(6):741-5._x000D_ <a href="https://pubmed.ncbi.nlm.nih.gov/16857760">10: Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening Pediatr Res. 2006 Sep;60(3):315-20. </a>_x000D_ _x000D_ <strong>Products Related to Human ACAD8 protein can be found at</strong> <a href="https://moleculardepot.com/product-category/Proteins/"> Proteins</a>