Gene: ACADVL

Alternate names for this Gene: ACAD6|LCACD|VLCAD

Gene Summary: The protein encoded by this gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: acyl-CoA dehydrogenase very long chain

Type of Gene: protein-coding

Gene: DLG4

Alternate names for this Gene: MRD62|PSD95|SAP-90|SAP90

Gene Summary: This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: discs large MAGUK scaffold protein 4

Type of Gene: protein-coding

rs1555528304 in ACADVL;DLG4 gene and Pearson's marrow-pancreas syndrome PMID 11349232 2001 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.

rs1057516714 in ACADVL;DLG4 gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 10384387 1999 DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 25834949 2015 Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

PMID 18670371 2008 Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 26881790 2016 Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

PMID 23430950 2012 Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect.

PMID 9546340 1998 Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 20060901 2010 Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 7479827 1995 Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

PMID 23867825 2013 The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

PMID 27246109 2016 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

PMID 24898617 2014 Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.

PMID 24801231 2014 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

PMID 21378393 2011 Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.

PMID 16443431 2006 Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.

PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 22841441 2012 Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.