ALDH3B2
Aldehyde Dehydrogenase 3 Family Member B2
Gene Information Card
| Symbol | ALDH3B2 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 3 Family Member B2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 222 ncbi.nlm.nih.gov/gene/222 |
| Ensembl ID | ENSG00000149295 |
| UniProt ID | P48448 |
| OMIM ID | 600466 |
| HGNC ID | 408 |
| Aliases | ALDH3B2, ALDH3B2 variant, ALDH3B2_HUMAN |
Description
ALDH3B2 encodes a member of the aldehyde dehydrogenase family that catalyzes the oxidation of aldehydes to carboxylic acids. This enzyme is involved in detoxification of reactive aldehydes, including those derived from lipid peroxidation and alcohol metabolism. The protein is localized in the cytoplasm and is expressed in multiple tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol sensitivity | Metabolism of acetaldehyde | PMID: 12368274 |
| Oxidative stress-related disorders | Detoxification of lipid peroxidation aldehydes | PMID: 15670783 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 4.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte model |
| HEK293 | 6.7 | Embryonic kidney |
| A549 | 3.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Start codon loss |
| p.Arg115His | Missense | <0.01% | Reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
p.Arg115His reduces enzymatic activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • aldehyde dehydrogenase (NAD+) activity (GO:0004029) | • cytosol (GO:0005829) |
| • ethanol catabolic process (GO:0006068) | • metabolic process (GO:0008152) |
Pathways
• Alcohol metabolism (Reactome: R-HSA-71311)
• Metabolism of aldehydes (Reactome: R-HSA-71384)
Protein Summary
ALDH3B2 is a 485-amino acid protein with a molecular weight of approximately 53 kDa. It belongs to the aldehyde dehydrogenase superfamily and uses NAD+ as a cofactor to oxidize a broad range of aldehydes, including acetaldehyde and medium-chain aldehydes. The enzyme plays a role in cellular detoxification and protection against oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH3B2 Knockout HEK293 Cell Line | EDJ-KQ2545 | Human | 222 | Details Get a Quote |
| ALDH3B2 Knockout HeLa Cell Line | EDJ-KQ52592 | Human | 222 | Details Get a Quote |
| ALDH3B2 Knockout A-549 Cell Line | EDJ-KQ61069 | Human | 222 | Details Get a Quote |
| ALDH3B2 Knockout HCT 116 Cell Line | EDJ-KQ69552 | Human | 222 | Details Get a Quote |
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