HIBADH
3-Hydroxyisobutyrate Dehydrogenase
Gene Information Card
| Symbol | HIBADH |
|---|---|
| Full Name | 3-Hydroxyisobutyrate Dehydrogenase |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 11112 ncbi.nlm.nih.gov/gene/11112 |
| Ensembl ID | ENSG00000106070 |
| UniProt ID | P31937 |
| OMIM ID | 606902 |
| HGNC ID | 4907 |
| Aliases | HIBADH, HIBADH1, NS5ATP1 |
Description
HIBADH encodes 3-hydroxyisobutyrate dehydrogenase, a mitochondrial enzyme involved in the catabolism of valine. It catalyzes the reversible oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde, using NAD+ as a cofactor. This gene is expressed in various tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3-Hydroxyisobutyric aciduria | Deficiency in HIBADH leads to accumulation of 3-hydroxyisobutyric acid, causing metabolic acidosis and neurological symptoms. | ClinVar; OMIM #606902 |
| Valine metabolism disorder | Impaired valine catabolism due to HIBADH mutations results in elevated valine intermediates. | NCBI Gene; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.2 | High |
| Heart | 6.8 | Medium |
| Skeletal Muscle | 5.1 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| HEK293 | 8.5 | Embryonic kidney cells |
| K562 | 3.2 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; associated with 3-hydroxyisobutyric aciduria |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Reduced enzyme activity; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to reduced or absent enzyme activity cause 3-hydroxyisobutyric aciduria.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 3-hydroxyisobutyrate dehydrogenase activity | • NAD binding |
| • valine catabolic process | • mitochondrion |
Pathways
• Valine
• leucine and isoleucine degradation (KEGG: hsa00280)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The HIBADH protein is a homodimeric mitochondrial dehydrogenase of 36 kDa. It catalyzes the NAD+-dependent oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde, a key step in valine catabolism. Deficiency leads to accumulation of toxic metabolites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HIBADH Knockout HEK293 Cell Line | EDJ-KQ2273 | Human | 11112 | Details Get a Quote |
| HIBADH Knockout A-549 Cell Line | EDJ-KQ22615 | Human | 11112 | Details Get a Quote |
| HIBADH Knockout HCT 116 Cell Line | EDJ-KQ22616 | Human | 11112 | Details Get a Quote |
| HIBADH Knockout HeLa Cell Line | EDJ-KQ22617 | Human | 11112 | Details Get a Quote |
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