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

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

rs41283399 in DLG4;ACADVL gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs140629318 in DLG4;ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 12213615 2002 A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency.

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

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

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

PMID 22847164 2012 Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.

PMID 11590124 2001 Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

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 26453363 2016 The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

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

PMID 10384387 1999 DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

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 29552494 2018 Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.