Isovaleryl Coenzyme A Dehydrogenase (IVD)

ACAD2

SPN	T096
HGNC	6186
MGI	1929242
PubMed	11402190
RGD	2936
UniProt	P26440
Wiki	IVD

Isovaleryl coenzyme A dehydrogenase is an enzyme which catalyzes the conversion of isovaleryl-coenzyme A to methylcrotonyl-CoA. A deficiency of this enzyme causes isovaleric acidemia.In size, IVD precursor and mature proteins produced by class I mutants are indistinguishable from their normal counterparts. Class II, III, and IV mutants make IVD precursor proteins 42 kD in size rather than the normal 45 kD.The deduced 423-amino acid protein shares 35.8% and 31.6% sequence identity with human short and medium chain acyl-CoA dehydrogenases, respectively, and 89.6% sequence identity with rat IVD. The leader sequence was determined to be overall positively charged, as is typical of other nuclear-encoded mitochondrial matrix enzymes. The molecular mass of the mature protein is 43 kD.

Reference

"Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts."
J. Clin. Invest. 85:1058-1064(1990) [PubMed] [Europe PMC] [Abstract]

"Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene."
Am. J. Hum. Genet. 66:356-367(2000) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Analysis of the DNA sequence and duplication history of human chromosome 15."
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]

"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]

"Structural organization of the human isovaleryl-CoA dehydrogenase gene."
Genomics 15:582-590(1993) [PubMed] [Europe PMC] [Abstract]

"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."
J. Biol. Chem. 267:2494-2501(1992) [PubMed] [Europe PMC] [Abstract]

"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]

"Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase."
Biochemistry 34:10146-10152(1995) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Structure of human isovaleryl-CoA dehydrogenase at 2.6-A resolution: structural basis for substrate specificity."
Biochemistry 36:8455-8464(1997) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia."
Am. J. Hum. Genet. 49:147-157(1991) [PubMed] [Europe PMC] [Abstract]

"Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia."
Biochemistry 37:10325-10335(1998) [PubMed] [Europe PMC] [Abstract]

"Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia."
Pediatr. Int. 53:990-994(2011) [PubMed] [Europe PMC] [Abstract]

"Clinical variability of isovaleric acidemia in a genetically homogeneous population."
J. Inherit. Metab. Dis. 35:1021-1029(2012) [PubMed] [Europe PMC] [Abstract]

"Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant."
Gene 524:396-400(2013) [PubMed] [Europe PMC] [Abstract]