Gene: MIR324
Alternate names for this Gene: MIRN324|hsa-mir-324|mir-324
Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.1
Description of this Gene: microRNA 324
Type of Gene: ncRNA
Gene: DVL2
Alternate names for this Gene: -
Gene Summary: This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans.
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.1
Description of this Gene: dishevelled segment polarity protein 2
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
rs1057520507 in
MIR324;DVL2;ACADVL gene and
Very long chain acyl-CoA dehydrogenase deficiency
PMID 10431122 1999 Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
PMID 27029698 2016 A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.
PMID 29111448 2018 Next generation sequencing as a follow-up test in an expanded newborn screening programme.
PMID 4022672 1985 Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
PMID 7479827 1995 Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
PMID 7769092 1995 Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
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 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.
PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
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 19327992 2009 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
PMID 27943070 2017 Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.
PMID 27209629 2016 Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
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.