AlphaFold predicted structure
HIBCH · Q6NVY1
Mean pLDDT
93.9/ 100
Very high
386 residues
Confidence breakdown
- Very high(≥ 90)89%
- Confident(70–90)2%
- Low(50–70)6%
- Very low(< 50)3%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
HIBCH
Chr 2q32.23-hydroxyisobutyryl-CoA hydrolase
- MANE:
- ENST00000359678.10
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalPyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomal
+3 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
3-hydroxyisobutyryl-CoA hydrolase deficiency
0.81Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
0.72hereditary disease
0.48neurodegenerative disease
0.46Leigh syndrome
0.37liver disorder
0.34cervical carcinoma
0.25placental retention
0.25mitochondrial disease
0.12colorectal carcinoma
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA