The IVDgene is located on chromosome 15q14-15 and consists of 12 exons that span ~15 kb of genomic DNA. IVD protein is active in mitochondria, and the gene encodes a precursor protein with an amino terminal mitochondrial targeting sequence that is cleaved to make mature protein in the mitochondria. The final enzyme is a homotetramer. Multiple mutations have been identified in the IVDgene causing isovaleric acidemia. A common c.932C>T (p.A282V) variant causes biochemical findings, but not disease.
IVD