Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
Combined Automated Annotation using Multiple IEA Methods
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
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Heterologous expression of the human HIBADH gene product in E. coli confirmed that it has 3-hydroxyisobutyrate dehydrogenase activity, identifying HIBADH as the human enzyme of this step of valine catabolism.
"the product of the HIBADH gene indeed displays 3-hydroxyisobutyrate dehydrogenase activity"
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HIBADH was excluded as the causative gene of 3-hydroxyisobutyric aciduria: no mutations were found and enzyme activity in patient fibroblasts was normal.
"We conclude that HIBADH is not the causative gene in 3-hydroxyisobutyric aciduria."
A reference map of the human binary protein interactome.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
methylmalonyl semialdehyde + NADH + H+ <=> beta-hydroxyisobutyrate + NAD+
beta-hydroxyisobutyrate + NAD+ <=> methylmalonyl semialdehyde + NADH + H+