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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ALDH7A1
aldehyde dehydrogenase 7 family member A1
Chromosome 5 · 5q23.2
NCBI Gene: 501Ensembl: ENSG00000164904.19HGNC: HGNC:877UniProt: P49419
132PubMed Papers
21Diseases
0Drugs
185Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
aldehyde dehydrogenase (NAD+) activityL-aminoadipate-semialdehyde dehydrogenase [NAD(P)+] activityprotein bindingbetaine-aldehyde dehydrogenase (NAD+) activitypyridoxine-dependent epilepsypyridoxine-dependent epilepsy caused by ALDH7A1 mutantgenetic disorderSeizure
✦AI Summary

ALDH7A1 (aldehyde dehydrogenase 7 family member A1) encodes α-aminoadipic semialdehyde dehydrogenase, a key enzyme in lysine oxidation 1. The protein functions as a critical ferroptosis suppressor through dual mechanisms: it generates membrane NADH to support FSP1 activity and directly reduces lipid peroxidation by consuming reactive aldehydes like 4-hydroxynonenal 2. Upon ferroptotic stress, AMPK-mediated phosphorylation recruits ALDH7A1 to plasma membranes, stabilizing FSP1 and enhancing antioxidant defense 2. Additionally, ALDH7A1 regulates cellular energy homeostasis during metabolic stress by inhibiting COPI-mediated transport. Pathogenic ALDH7A1 mutations cause pyridoxine-dependent epilepsy (PDE-ALDH7A1), an autosomal recessive developmental and epileptic encephalopathy with estimated incidence of 1:64,352 live births 3. This disorder results from impaired lysine metabolism, causing accumulation of toxic metabolites that inactivate pyridoxal 5'-phosphate (PLP), an essential cofactor for neurotransmitter synthesis 4. While pharmacologic pyridoxine achieves seizure control, most patients experience developmental delay and intellectual disability without adjunctive lysine-restriction therapy and arginine supplementation 1. The heterogeneous phenotypic spectrum includes brain malformations, refractory seizures, and multisystem neonatal manifestations 5. Early diagnosis through genetic testing is critical for optimizing cognitive outcomes. Rare disease experts strongly support ALDH7A1 inclusion in newborn screening programs 6.

Sources cited
1
ALDH7A1 generates membrane NADH to support FSP1-mediated ferroptosis suppression and consumes reactive aldehydes to reduce lipid peroxidation
PMID: 40233740
2
ALDH7A1 deficiency causes pyridoxine-dependent epilepsy (PDE-ALDH7A1), an autosomal recessive condition affecting lysine oxidation, treated with pyridoxine, lysine-restricted diet, and arginine supplementation
PMID: 33200442
3
ALDH7A1 mutations cause PDE with estimated incidence of 1:64,352 live births; 75% of patients have intellectual disability despite seizure control
PMID: 30043187
4
ALDH7A1 deficiency causes accumulation of metabolites that inactivate pyridoxal 5'-phosphate, leading to B6-responsive epilepsy through impaired neurotransmitter metabolism
PMID: 30671974
5
ALDH7A1 mutations are associated with heterogeneous phenotypes including brain malformations, refractory seizures, and multisystem neonatal disorders
PMID: 30005813
6
Rare disease experts recommend ALDH7A1 inclusion in newborn genome sequencing programs for treatable conditions (85% endorsement)
PMID: 37155167
7
High ALDH7A1 expression in lung squamous cell carcinoma independently predicts poor prognosis and activates JAK-STAT and mTOR signaling pathways
PMID: 39711312
Disease Associationsⓘ21
pyridoxine-dependent epilepsyOpen Targets
0.79Strong
pyridoxine-dependent epilepsy caused by ALDH7A1 mutantOpen Targets
0.77Strong
genetic disorderOpen Targets
0.54Moderate
SeizureOpen Targets
0.53Moderate
epilepsyOpen Targets
0.44Moderate
VentriculomegalyOpen Targets
0.43Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.38Weak
Neonatal seizureOpen Targets
0.34Weak
adult-onset autosomal dominant demyelinating leukodystrophyOpen Targets
0.34Weak
developmental and epileptic encephalopathy, 13Open Targets
0.33Weak
osteoporosisOpen Targets
0.33Weak
contact dermatitisOpen Targets
0.28Weak
Abnormal brain morphologyOpen Targets
0.27Weak
Abnormality of the nervous systemOpen Targets
0.27Weak
COVID-19Open Targets
0.26Weak
infantile spasmsOpen Targets
0.15Weak
developmental and epileptic encephalopathy, 1Open Targets
0.15Weak
infantile epileptic-dyskinetic encephalopathyOpen Targets
0.15Weak
Spasticity - intellectual disability - X-linked epilepsyOpen Targets
0.15Weak
Intellectual disabilityOpen Targets
0.11Weak
Epilepsy, early-onset, 4, vitamin B6-dependentUniProt
Pathogenic Variants185
NM_001182.5(ALDH7A1):c.394-1G>CPathogenic
not provided|Pyridoxine-dependent epilepsy
★★☆☆2026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)Pathogenic
Pyridoxine-dependent epilepsy|not provided|Seizure|Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
★★☆☆2026→ Residue 427
NM_001182.5(ALDH7A1):c.605G>A (p.Gly202Asp)Pathogenic
Pyridoxine-dependent epilepsy
★★☆☆2026→ Residue 202
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)Pathogenic
not provided|Pyridoxine-dependent epilepsy|Inborn genetic diseases
★★☆☆2026→ Residue 335
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg)Pathogenic
not provided|Pyridoxine-dependent epilepsy
★★☆☆2026→ Residue 505
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly)Pathogenic
not provided|Pyridoxine-dependent epilepsy
★★☆☆2026→ Residue 203
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu)Pathogenic
Pyridoxine-dependent epilepsy
★★☆☆2026→ Residue 177
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)Pathogenic
Pyridoxine-dependent epilepsy|not provided|Seizure;Ventriculomegaly|See cases|Inborn genetic diseases
★★☆☆2026→ Residue 110
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)Pathogenic
Pyridoxine-dependent epilepsy
★★☆☆2026→ Residue 354
NM_001182.5(ALDH7A1):c.191_192dup (p.Val65fs)Pathogenic
not provided|Pyridoxine-dependent epilepsy|ALDH7A1-related disorder
★★☆☆2025→ Residue 65
NM_001182.5(ALDH7A1):c.246+1G>APathogenic
not provided|Pyridoxine-dependent epilepsy|Melanoma
★★☆☆2025
NM_001182.5(ALDH7A1):c.950C>T (p.Ser317Leu)Pathogenic
not provided|Pyridoxine-dependent epilepsy
★★☆☆2025→ Residue 317
NM_001182.5(ALDH7A1):c.312+1G>APathogenic
not provided|Pyridoxine-dependent epilepsy|Neonatal seizure
★★☆☆2025
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs)Pathogenic
not provided|Pyridoxine-dependent epilepsy
★★☆☆2025→ Residue 301
NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter)Pathogenic
Pyridoxine-dependent epilepsy
★★☆☆2025→ Residue 335
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs)Pathogenic
Pyridoxine-dependent epilepsy
★★☆☆2025→ Residue 471
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)Pathogenic
Pyridoxine-dependent epilepsy|not provided|Inborn genetic diseases|Seizure|ALDH7A1-related disorder
★★☆☆2025→ Residue 278
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter)Pathogenic
Pyridoxine-dependent epilepsy|not provided|See cases
★★☆☆2025→ Residue 266
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe)Pathogenic
not provided|Pyridoxine-dependent epilepsy
★★☆☆2025→ Residue 459
NM_001182.5(ALDH7A1):c.518-1G>CPathogenic
Pyridoxine-dependent epilepsy|See cases|Cervical cancer
★★☆☆2025
View on ClinVar ↗
Related Genes
MAOAProtein interaction98%MAOBProtein interaction98%CALML5Protein interaction96%CALML3Protein interaction96%CALML4Protein interaction96%CYP4A22Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
78%
Brain
62%
Heart
51%
Lung
12%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
ALDH7A1MAOAMAOBCALML5CALML3CALML4CYP4A22
PROTEIN STRUCTURE
Preparing viewer…
PDB2J6L · 1.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.64–0.98]
RankingsWhere ALDH7A1 stands among ~20K protein-coding genes
  • #3,507of 20,598
    Most Researched132 · top quartile
  • #380of 5,498
    Most Pathogenic Variants185 · top 10%
  • #9,384of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedALDH7A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Disorders affecting vitamin B
PMID: 30671974
J Inherit Metab Dis · 2019
1.00
2
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
PMID: 33200442
J Inherit Metab Dis · 2021
0.90
3
ALDH7A1 protects against ferroptosis by generating membrane NADH and regulating FSP1.
PMID: 40233740
Cell · 2025
0.80
4
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
PMID: 30043187
J Inherit Metab Dis · 2019
0.70
5
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
PMID: 32956737
Biochimie · 2021
0.60