ALDH8A1: Aldehyde Dehydrogenase 8 Family Member A1
A key enzyme in retinoic acid biosynthesis and amino acid metabolism
Gene Information Card
| Symbol | ALDH8A1 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 8 Family Member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 64577 ncbi.nlm.nih.gov/gene/64577 |
| Ensembl ID | ENSG00000112742 |
| UniProt ID | Q9H2A2 |
| OMIM ID | 611124 |
| HGNC ID | 15471 |
| Aliases | ALDH12, MGC138290 |
Description
ALDH8A1 encodes a member of the aldehyde dehydrogenase family that catalyzes the oxidation of 9-cis-retinal to 9-cis-retinoic acid, a ligand for retinoid X receptors. The enzyme also acts on other aldehyde substrates, including amino acid-derived aldehydes. It is expressed in liver, kidney, and other tissues, and plays a role in retinoic acid signaling and metabolic detoxification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren-Larsson syndrome (possible modifier) | Altered fatty aldehyde metabolism | Limited evidence; indirect association via aldehyde dehydrogenase family |
| Cancer (various) | Dysregulation of retinoic acid signaling | Expression changes observed in some tumor types; not validated as driver |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 5.1 | Low |
| Adrenal gland | 4.2 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 2.1 | Embryonic kidney cells |
| A549 | 1.5 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Reduced enzymatic activity in vitro |
| c.1522G>A (p.Gly508Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg335Trp) show reduced aldehyde dehydrogenase activity in cellular assays.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0001758 - retinal dehydrogenase activity |
| • GO:0005829 - cytosol | • GO:0005737 - cytoplasm |
| • GO:0008152 - metabolic process | • GO:0042572 - retinol metabolic process |
Pathways
• Retinol metabolism (KEGG: hsa00830)
• Metabolic pathways (KEGG: hsa01100)
• Retinoic acid biosynthesis
Protein Summary
ALDH8A1 is a 487-amino acid cytosolic enzyme that belongs to the aldehyde dehydrogenase superfamily. It uses NAD+ as a cofactor to oxidize 9-cis-retinal to 9-cis-retinoic acid, a key retinoid X receptor ligand. The protein also metabolizes other aldehydes, including those derived from amino acid catabolism. Its structure includes a catalytic cysteine residue (Cys302) essential for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH8A1 Knockout HEK293 Cell Line | EDJ-KQ12329 | Human | 64577 | Details Get a Quote |
| ALDH8A1 Knockout HCT 116 Cell Line | EDJ-KQ39918 | Human | 64577 | Details Get a Quote |
| ALDH8A1 Knockout HeLa Cell Line | EDJ-KQ41176 | Human | 64577 | Details Get a Quote |
| ALDH8A1 Knockout A-549 Cell Line | EDJ-KQ65575 | Human | 64577 | Details Get a Quote |
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