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Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL)

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VLCAD; LCACD; ACAD6; Very long-chain specific acyl-CoA dehydrogenase, mitochondrial

Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL)
CCC G349
HGNC 92
MGI 895149
PubMed 24263034
RGD 2014
UniProt P49748
Wiki ACADVL
ACADVL is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. Defects in ACADVL are the cause of very long chain acyl- CoA dehydrogenase deficiency (VLCAD deficiency) . VLCAD deficiency is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. VLCAD expression in all tissues examined, with highest expression in heart and skeletal muscle, followed by placenta and pancreas.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG349Hu01 Recombinant Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAG349Hu01 Polyclonal Antibody to Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) WB; IHC; ICC; IP.
Assay Kits SEG349Hu ELISA Kit for Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG349Mu01 Recombinant Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) CLIA Kit Customized Service Offer
n/a ELISA Kit for Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) CLIA Kit Customized Service Offer
n/a ELISA Kit for Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL) ELISA Kit Customized Service Offer
  1. "Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients."Am. J. Hum. Genet. 57:273-283(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene."Hum. Mol. Genet. 5:461-472(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis."Biochem. Biophys. Res. Commun. 217:987-992(1995) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients."J. Clin. Invest. 95:2465-2473(1995) [PubMed] [Europe PMC] [Abstract]
  8. "Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency."Am. J. Hum. Genet. 64:479-494(1999) [PubMed] [Europe PMC] [Abstract]
  9. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase."J. Biol. Chem. 283:9435-9443(2008) [PubMed] [Europe PMC] [Abstract]
  13. "Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients."Am. J. Hum. Genet. 58:97-106(1996) [PubMed] [Europe PMC] [Abstract]
  14. "Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset."Ann. Neurol. 43:540-544(1998) [PubMed] [Europe PMC] [Abstract]
  15. "Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death."Circulation 99:1337-1343(1999) [PubMed] [Europe PMC] [Abstract]