Gene: IVD

Alternate names for this Gene: ACAD2

Gene Summary: Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q15.1

Description of this Gene: isovaleryl-CoA dehydrogenase

Type of Gene: protein-coding

rs2304645 in IVD gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs10518693 in IVD gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs11634187 in IVD gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs121434284 in IVD gene and Isovaleryl-CoA dehydrogenase deficiency PMID 28535199 2017 Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

PMID 9665741 1998 Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

PMID 22350545 2012 Clinical variability of isovaleric acidemia in a genetically homogeneous population.

PMID 23587913 2013 Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.

PMID 22004070 2011 Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.

PMID 2063866 1991 Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

PMID 16602101 2006 Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

PMID 27904153 2017 Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

PMID 15486829 2004 A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

PMID 22960500 2012 Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

PMID 24516753 2014 Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

PMID 10677295 2000 Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

PMID 10713113 2000 Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.

PMID 17576084 2007 Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

PMID 19099814 2008 [Clinical and mutational study of a Chinese infant with isovaleric acidemia].

PMID 16825284 2006 An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

PMID 17027310 2007 Genetic mutation profile of isovaleric acidemia patients in Taiwan.

PMID 25220015 2014 Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

PMID 15337167 2004 Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability.

PMID 26937393 2015 Angelman syndrome and isovaleric acidemia: What is the link?

PMID 1310317 1992 The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors.

PMID 2318964 1990 Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.

PMID 24637313 2014 Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.

PMID 20519759 2010 A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia.

PMID 26018748 2015 Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.

PMID 27629047 2016 Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

rs1001528 in IVD gene and Lung Diseases, Interstitial PMID 23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

rs2075624 in IVD gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs2304645 in IVD gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs10518693 in IVD gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.