AlphaFold predicted structure
IVD · P26440
Mean pLDDT
93.4/ 100
Very high
426 residues
Confidence breakdown
- Very high(≥ 90)91%
- Confident(70–90)1%
- Low(50–70)1%
- Very low(< 50)8%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
IVD
Chr 15q15.1isovaleryl-CoA dehydrogenase
- Aliases:
- ACAD2, IVDH
- MANE:
- ENST00000487418.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalDiagnostic testing for Isovaleric acidaemia
BIALLELIC, autosomal or pseudoautosomalHyperammonaemia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalKetotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalStructural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
isovaleric acidemia
0.85hereditary disease
0.51idiopathic pulmonary fibrosis
0.20interstitial lung disease
0.13Intellectual disability
0.12postinflammatory pulmonary fibrosis
0.11retinitis pigmentosa
0.10atrial fibrillation
0.10early-onset non-syndromic cataract
0.09Posterior polar cataract
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Isovaleryl-CoA dehydrogenase, mitochondrial
A mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism, where isovaleryl-CoA (3-methylbutanoyl-CoA) is metabolized to 3-methylbut-2-enoyl-CoA (PubMed:7640268). To a lesser extent, it also participates in the first step in fatty acid beta-oxidation, in which it catalyzes the proR-proR stereospecific alpha,beta-dehydrogenation of other saturated short-chain acyl-CoA thioesters such as pentanoyl-CoA, hexanoyl-CoA and butanoyl-CoA, using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor(PubMed:7640268)