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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HIBCH
3-hydroxyisobutyryl-CoA hydrolase
Chromosome 2 Β· 2q32.2
NCBI Gene: 26275Ensembl: ENSG00000198130.17HGNC: HGNC:4908UniProt: A0A140VJL0
47PubMed Papers
21Diseases
0Drugs
41Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
3-hydroxyisobutyryl-CoA hydrolase activityL-valine catabolic processmitochondrionmitochondrial matrix3-hydroxyisobutyryl-CoA hydrolase deficiencyNeurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencygenetic disorderneurodegenerative disease
✦AI Summary

HIBCH (3-hydroxyisobutyryl-CoA hydrolase) is a mitochondrial matrix enzyme that catalyzes the hydrolysis of 3-hydroxyisobutyryl-CoA and isobutyryl-CoA, functioning in valine catabolism and branched-chain amino acid metabolism. The enzyme converts valine metabolites during normal energy production; its activity is essential for proper mitochondrial bioenergetics 1. HIBCH deficiency causes a rare autosomal recessive neurodegenerative disorder characterized by movement disorders, including ataxia and dystonia, with basal ganglia involvement 1. Pathogenically, HIBCH loss leads to abnormal mitochondrial morphology, respiratory chain defects, and elevated lysine methacrylation of mitochondrial proteins, which contributes to disease pathology 2. Ectopic lysine methacrylation-induced protein modification appears mechanistic in HIBCH-deficiency phenotypes, and reducing methacrylation levels partially rescues defects in patient fibroblasts 2. Clinically, HIBCH mutations represent a potentially treatable neurodevelopmental disorder identifiable through exome sequencing in consanguineous families 3. Beyond neurodegeneration, HIBCH dysregulation associates with metabolic disease: elevated plasma 3-HIB (HIBCH product) correlates with fatty liver and insulin resistance 4, while genetic evidence indicates HIBCH inversely associates with type 2 diabetes risk 5. These findings establish HIBCH as relevant to both neurodegenerative and metabolic disease pathways.

Sources cited
1
HIBCH mutations cause movement disorders with ataxia/dystonia; enzyme activity is reduced in patient fibroblasts; valine challenge reduces oxygen consumption
PMID: 27400804
2
HIBCH deficiency results in abnormal mitochondrial morphology, respiratory defects, and elevated lysine methacrylation; reducing methacrylation rescues defects in patient fibroblasts
PMID: 40056416
3
HIBCH mutations identified as treatable disorder in neurodevelopmental disease screening; diagnostic yield of 36.8% for exome sequencing in consanguineous families
PMID: 28097321
4
HIBCH produces 3-HIB metabolite; elevated plasma 3-HIB associates with fatty liver; HIBCH regulates hepatic lipid accumulation and fatty acid metabolism
PMID: 37084480
5
HIBCH identified as Tier 1 causal gene showing inverse relationship with type 2 diabetes risk through multi-omics Mendelian randomization analysis
PMID: 39280009
Disease Associationsβ“˜21
3-hydroxyisobutyryl-CoA hydrolase deficiencyOpen Targets
0.81Strong
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyOpen Targets
0.72Strong
genetic disorderOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Leigh syndromeOpen Targets
0.37Weak
liver diseaseOpen Targets
0.36Weak
cervical carcinomaOpen Targets
0.28Weak
placental retentionOpen Targets
0.27Weak
mitochondrial diseaseOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.08Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.06Suggestive
holoprosencephaly-hypokinesia-congenital contractures syndromeOpen Targets
0.06Suggestive
hypothyroidismOpen Targets
0.05Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.05Suggestive
Spina bifida - hypospadiasOpen Targets
0.05Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.05Suggestive
tropical spastic paraparesisOpen Targets
0.05Suggestive
anencephaly 1Open Targets
0.05Suggestive
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Open Targets
0.05Suggestive
spina bifidaOpen Targets
0.04Suggestive
3-hydroxyisobutryl-CoA hydrolase deficiencyUniProt
Pathogenic Variants41
NM_014362.4(HIBCH):c.1010_1011+3delPathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency|not provided
β˜…β˜…β˜†β˜†2025
NM_014362.4(HIBCH):c.891+1G>ALikely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency|Cervical cancer|not provided
β˜…β˜…β˜†β˜†2025
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)Pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency|See cases
β˜…β˜…β˜†β˜†2025β†’ Residue 338
NM_014362.4(HIBCH):c.809+1G>APathogenic
not provided|3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜…β˜†β˜†2025
NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala)Pathogenic
not provided|3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 305
NM_014362.4(HIBCH):c.609del (p.Gly204fs)Pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency|HIBCH-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 204
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)Pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 157
NM_014362.4(HIBCH):c.386-1G>CPathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜…β˜†β˜†2024
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)Pathogenic
not provided|3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 163
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)Likely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 153
NM_014362.4(HIBCH):c.852del (p.Leu284fs)Pathogenic
not provided|3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜…β˜†β˜†2022β†’ Residue 284
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)Likely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 377
NM_014362.3(HIBCH):c.1014_1015delAGLikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_014362.4(HIBCH):c.664-2A>GLikely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜†β˜†β˜†2024
NM_014362.4(HIBCH):c.129del (p.Gly44fs)Likely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 44
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)Likely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 66
NM_014362.4(HIBCH):c.488G>A (p.Cys163Tyr)Likely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 163
NM_014362.4(HIBCH):c.12_35del (p.Glu5_Arg12del)Likely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 5
NM_014362.4(HIBCH):c.536G>A (p.Gly179Asp)Likely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 179
NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)Likely pathogenic
3-hydroxyisobutyryl-CoA hydrolase deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 186
View on ClinVar β†—
Related Genes
MRPS6Protein interaction100%MRPS9Protein interaction100%MRPL36Protein interaction100%MRPS16Protein interaction100%MRPS11Protein interaction100%MRPS12Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
44%
Ovary
20%
Brain
19%
Lung
15%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
HIBCHMRPS6MRPS9MRPL36MRPS16MRPS11MRPS12
PROTEIN STRUCTURE
Preparing viewer…
PDB3BPT Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.48–1.08]
RankingsWhere HIBCH stands among ~20K protein-coding genes
  • #9,214of 20,598
    Most Researched47
  • #1,520of 5,498
    Most Pathogenic Variants41
  • #11,018of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedHIBCH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
PMID: 28097321
JAMA Psychiatry Β· 2017
1.00
2
Metabolic role of the hepatic valine/3-hydroxyisobutyrate (3-HIB) pathway in fatty liver disease.
PMID: 37084480
EBioMedicine Β· 2023
0.90
3
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
PMID: 27400804
Mov Disord Β· 2016
0.80
4
Identification of HIBCH and MGME1 as Mitochondrial Dynamics-Related Biomarkers in Alzheimer's Disease Via Integrated Bioinformatics Analysis.
PMID: 40286336
IET Syst Biol Β· 2025
0.70
5
Ectopic protein lysine methacrylation contributes to defects caused by loss of HIBCH or ECHS1.
PMID: 40056416
Cell Rep Β· 2025
0.60