Isovaleryl-CoA dehydrogenase (IVD) Associated conditions: 1. Isovaleryl-CoA dehydrogenase deficiency
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001159508.3 | NP_001152980.2 | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 2 | REVIEWED | NM_001354597.3 | NP_001341526.1 | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 3 | REVIEWED | NM_001354598.3 | NP_001341527.2 | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 4 | REVIEWED | NM_001354599.3 | NP_001341528.2 | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 5 | REVIEWED | NM_001354600.3 | NP_001341529.2 | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 6 | REVIEWED | NM_001354601.3 | NP_001341530.2 | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 7 | REVIEWED | NM_002225.5 | NP_002216.3 | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 8 | REVIEWED | NR_148925.2 | - | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 9 | REVIEWED | XR_007064441.1 | - | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
| 10 | REVIEWED | XR_007064442.1 | - | NC_000015.10 | (40405794..40435946) | Reference GRCh38.p14 Primary Assembly | P26440 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Isovaleryl-CoA dehydrogenase (IVD) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | enables | butyryl-CoA dehydrogenase activity | Function | - |
| 2 | Homo sapiens | IPI | enables | protein binding | Function | 32296183 |
| 3 | Homo sapiens | IDA | located_in | nucleoplasm | Component | - |
| 4 | Homo sapiens | IBA | is_active_in | mitochondrion | Component | 21873635 |
| 5 | Homo sapiens | IDA | located_in | mitochondrion | Component | - |
| 6 | Homo sapiens | ISS | located_in | mitochondrial matrix | Component | - |
| 7 | Homo sapiens | TAS | located_in | mitochondrial matrix | Component | - |
| 8 | Homo sapiens | IBA | involved_in | leucine catabolic process | Process | 21873635 |
| 9 | Homo sapiens | IDA | involved_in | leucine catabolic process | Process | 7640268 |
| 10 | Homo sapiens | IEA | involved_in | leucine catabolic process | Process | - |
| 11 | Homo sapiens | ISS | involved_in | leucine catabolic process | Process | - |
| 12 | Homo sapiens | IBA | enables | isovaleryl-CoA dehydrogenase activity | Function | 21873635 |
| 13 | Homo sapiens | IDA | enables | isovaleryl-CoA dehydrogenase activity | Function | 3597357 7640268 |
| 14 | Homo sapiens | ISS | enables | isovaleryl-CoA dehydrogenase activity | Function | - |
| 15 | Homo sapiens | IDA | involved_in | branched-chain amino acid catabolic process | Process | 7640268 |
| 16 | Homo sapiens | IDA | involved_in | fatty acid beta-oxidation using acyl-CoA dehydrogenase | Process | 3597357 |
| 17 | Homo sapiens | ISS | enables | identical protein binding | Function | - |
| 18 | Homo sapiens | IEA | enables | flavin adenine dinucleotide binding | Function | - |