ALDH1B1
Aldehyde Dehydrogenase 1 Family Member B1
Gene Information Card
| Symbol | ALDH1B1 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 1 Family Member B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.1 |
| NCBI Gene ID | 219 ncbi.nlm.nih.gov/gene/219 |
| Ensembl ID | ENSG00000137124 |
| UniProt ID | P30837 |
| OMIM ID | 100670 |
| HGNC ID | 408 |
| Aliases | ALDH5, ALDHX, ALDH1B1 |
Description
ALDH1B1 encodes a member of the aldehyde dehydrogenase family, a mitochondrial enzyme that catalyzes the oxidation of acetaldehyde to acetate, playing a key role in alcohol metabolism and detoxification of reactive aldehydes. It is expressed in various tissues including liver, kidney, and colon.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol Sensitivity | Reduced acetaldehyde oxidation due to ALDH1B1 deficiency leads to accumulation of toxic acetaldehyde | PMID: 12368274 |
| Colorectal Cancer | Altered ALDH1B1 expression may influence aldehyde detoxification and oxidative stress in colon epithelium | COSMIC: ALDH1B1 mutations in colorectal cancer |
| Hyperoxaluria | Potential role in glyoxylate metabolism; deficiency may contribute to oxalate overproduction | UniProt: P30837 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Colon | 6.1 | Medium |
| Lung | 3.2 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| Caco-2 | 5.2 | Colorectal adenocarcinoma cells |
| A549 | 2.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.115G>A (p.Gly39Arg) | Missense | <0.01 | Reduced enzyme activity |
| c.374C>T (p.Thr125Met) | Missense | <0.01 | Unknown functional effect |
| c.1006G>A (p.Gly336Ser) | Missense | <0.01 | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Gly39Arg reduce catalytic activity, impairing acetaldehyde oxidation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0005739 - mitochondrion |
| • GO:0006068 - ethanol catabolic process | • GO:0055114 - oxidation-reduction process |
Pathways
• Alcohol metabolism (Reactome: R-HSA-71311)
• Metabolism of aldehydes (Reactome: R-HSA-71384)
Protein Summary
ALDH1B1 is a mitochondrial aldehyde dehydrogenase that oxidizes acetaldehyde to acetate, a critical step in alcohol metabolism. It also detoxifies other reactive aldehydes, protecting cells from oxidative stress. The enzyme is a homotetramer and requires NAD+ as a cofactor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH1B1 Knockout HEK293 Cell Line | EDJ-KQ4035 | Human | 219 | Details Get a Quote |
| ALDH1B1 Knockout A-549 Cell Line | EDJ-KQ26381 | Human | 219 | Details Get a Quote |
| ALDH1B1 Knockout HCT 116 Cell Line | EDJ-KQ26382 | Human | 219 | Details Get a Quote |
| ALDH1B1 Knockout HeLa Cell Line | EDJ-KQ26383 | Human | 219 | Details Get a Quote |
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