ALDH7A1 Gene: Aldehyde Dehydrogenase 7 Family Member A1
A key enzyme in lysine catabolism and associated with pyridoxine-dependent epilepsy
Gene Information Card
| Symbol | ALDH7A1 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 7 Family Member A1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q23.2 |
| NCBI Gene ID | 501 ncbi.nlm.nih.gov/gene/501 |
| Ensembl ID | ENSG00000164904 |
| UniProt ID | P49419 |
| OMIM ID | 107323 |
| HGNC ID | 877 |
| Aliases | ATQ, EPD, PDE, antiquitin |
Description
ALDH7A1 encodes antiquitin, an aldehyde dehydrogenase enzyme that catalyzes the oxidation of α-aminoadipic semialdehyde (α-AASA) in the lysine degradation pathway. Mutations in this gene cause pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by seizures that are responsive to pyridoxine (vitamin B6). The enzyme is also involved in cellular responses to osmotic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyridoxine-dependent epilepsy (PDE) | Loss-of-function mutations in ALDH7A1 lead to accumulation of α-AASA, which forms adducts with pyridoxal phosphate, reducing its availability for neurotransmitter synthesis. | ClinVar, OMIM |
| Epilepsy, early infantile epileptic encephalopathy | Severe biallelic mutations cause neonatal-onset seizures refractory to standard anticonvulsants but responsive to pyridoxine. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 7.5 | Embryonic kidney cells |
| SH-SY5Y | 5.0 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1279G>C (p.Glu427Gln) | Missense | Common in PDE | Loss of enzymatic activity |
| c.1547G>A (p.Arg516His) | Missense | Reported | Reduced catalytic efficiency |
| c.834G>A (p.Trp278*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PDE-associated mutations result in loss of aldehyde dehydrogenase activity, leading to α-AASA accumulation.
Gain of Function (GOF)
Not reported for ALDH7A1.
Dominant Negative (DN)
Not reported; PDE is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • aldehyde dehydrogenase (NAD+) activity (GO:0004029) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • L-lysine catabolic process (GO:0006559) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Lysine degradation (KEGG: hsa00310)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
Antiquitin (ALDH7A1) is a 539-amino acid aldehyde dehydrogenase that functions as a homotetramer. It catalyzes the NAD+-dependent oxidation of α-aminoadipic semialdehyde to α-aminoadipate in the lysine degradation pathway. Deficiency due to mutations leads to accumulation of toxic metabolites and pyridoxal phosphate depletion, causing pyridoxine-dependent epilepsy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH7A1 Knockout HEK293 Cell Line | EDJ-KQ4111 | Human | 501 | Details Get a Quote |
| ALDH7A1 Knockout A-549 Cell Line | EDJ-KQ25169 | Human | 501 | Details Get a Quote |
| ALDH7A1 Knockout HCT 116 Cell Line | EDJ-KQ26504 | Human | 501 | Details Get a Quote |
| ALDH7A1 Knockout HeLa Cell Line | EDJ-KQ26505 | Human | 501 | Details Get a Quote |
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