IVD Antibody, Biotin conjugated

1. Nine novel isovaleryl-CoA dehydrogenase mutations have been found in a Spanish cohort with isovaleric acidemia. PMID: 27904153
2. Our results have illustrated the heterogeneous mutation spectrum and clinical presentation of IVA in the Japanese patients PMID: 26018748
3. kinetics and ligand binding of isovaleryl-CoA dehydrogenase PMID: 25450250
4. study reports the first Saudi isovaleric acidemia patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype-genotype correlation of the disease in the Saudi population PMID: 23063737
5. A heterogeneous mutation spectrum in the IVD gene was identified in isovaleric acidemia patients in the United Arab Emirates. PMID: 22960500
6. All were homozygous for a single c.367 G > A (p.G123R) mutation. Despite the genetic homogeneity of this South African group, the clinical presentation varied, ranging from mental handicap and episodes of metabolic derangement to an asymptomatic state PMID: 22350545
7. A child with isovaleric acidemia was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. The former may be a founder mutation in the Chinese population. PMID: 20519759
8. Replacement of the catalytic glutamate in either short-chain acyl-CoA dehydrogenase (SCAD) or isovaleryl-CoA dehydrogenase (IVD)with glycine resulted in a several-fold reduction in affinity for substrate. PMID: 16376132
9. Mutations of isovaleryl-CoA dehydrogenase gene is associated with isovaleric acidemia PMID: 17576084

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HGNC: 6186

OMIM: 243500

KEGG: hsa:3712

STRING: 9606.ENSP00000418397

UniGene: Hs.513646