HIBADH
Description
The HIBADH (3-hydroxyisobutyrate dehydrogenase) is a protein-coding gene located on chromosome 7.
HIBADH, also known as 3-hydroxyisobutyrate dehydrogenase, is an enzyme that plays a crucial role in the breakdown of valine, leucine, and isoleucine. It catalyzes the conversion of 3-hydroxyisobutyrate to methylmalonate semialdehyde, a key step in the metabolic pathway. This mitochondrial enzyme is a tetramer, meaning it is composed of four identical subunits. HIBADH uses NAD+ as a cofactor and its activity is reversible, meaning it can catalyze both the forward and reverse reactions. The enzyme's structure has been studied extensively and several structures have been solved, providing insights into its catalytic mechanism and interactions with substrates and cofactors.
HIBADH is also known as NS5ATP1.
Associated Diseases
- urolithiasis
- lower urinary tract calculus
- X-linked retinal dysplasia
- snowflake vitreoretinal degeneration
- retinitis pigmentosa