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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ALDH6A1
aldehyde dehydrogenase 6 family member A1
Chromosome 14 Β· 14q24.3
NCBI Gene: 4329Ensembl: ENSG00000119711.14HGNC: HGNC:7179UniProt: A0A024R6G4
51PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingmethylmalonate-semialdehyde dehydrogenase (acylating, NAD) activitythymine catabolic processL-valine catabolic processmethylmalonate semialdehyde dehydrogenase deficiencyDevelopmental delay due to methylmalonate semialdehyde dehydrogenase deficiencygenetic disorderalcohol drinking
✦AI Summary

ALDH6A1 encodes methylmalonate semialdehyde dehydrogenase, a mitochondrial enzyme that catalyzes the oxidation of methylmalonate semialdehyde to propionyl-CoA in the valine catabolic pathway 1. The enzyme exhibits NAD-dependent aldehyde dehydrogenase activity essential for branched-chain amino acid metabolism, particularly valine catabolism 2. ALDH6A1 functions as a tumor suppressor in multiple cancers, with downregulation observed in hepatocellular carcinoma, clear cell renal cell carcinoma, gastric cancer, and colon cancer 2345. Mechanistically, ALDH6A1-generated propionyl-CoA inhibits citrate synthase activity, reducing tricarboxylic acid cycle flux and ATP production, thereby suppressing cancer cell proliferation 2. In colon cancer, ALDH6A1 inhibits the RAS/RAF/MEK/ERK signaling pathway 5. Disease relevance includes methylmalonate semialdehyde dehydrogenase deficiency, characterized by 3-hydroxyisobutyric aciduria and developmental delay, caused by mutations such as c.785C>A (S262Y) and c.184C>T (P62S) 1. ALDH6A1 is also decreased in Alzheimer's disease brain tissue and CSF, representing part of a mitochondrial dysfunction signature 6. Additionally, lysine propionylation of ALDH6A1 at Lys113 increases its activity and NADH production, potentially contributing to postoperative atrial fibrillation through oxidative stress mechanisms 7.

Sources cited
1
ALDH6A1 encodes methylmalonate semialdehyde dehydrogenase and mutations cause 3-hydroxyisobutyric aciduria
PMID: 21863277
2
ALDH6A1 catalyzes propionyl-CoA generation and acts as tumor suppressor in hepatocellular carcinoma
PMID: 36462680
3
ALDH6A1 is downregulated in clear cell renal cell carcinoma and suppresses tumorigenesis
PMID: 32093682
4
ALDH6A1 is downregulated in gastric cancer and associated with better prognosis
PMID: 36098688
5
ALDH6A1 inhibits colon cancer progression via RAS/RAF/MEK/ERK pathway modulation
PMID: 35907565
6
ALDH6A1 is decreased in Alzheimer's disease as part of mitochondrial dysfunction signature
PMID: 32711556
7
Lysine propionylation of ALDH6A1 increases activity and contributes to atrial fibrillation
PMID: 40467924
Disease Associationsβ“˜21
methylmalonate semialdehyde dehydrogenase deficiencyOpen Targets
0.69Moderate
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiencyOpen Targets
0.60Moderate
genetic disorderOpen Targets
0.41Moderate
alcohol drinkingOpen Targets
0.26Weak
atrial fibrillationOpen Targets
0.14Weak
gastric cancerOpen Targets
0.07Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.06Suggestive
clear cell renal carcinomaOpen Targets
0.04Suggestive
hyperlipidemiaOpen Targets
0.03Suggestive
urinary bladder carcinomaOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
Acute hepatic failureOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
transitional cell carcinoma of kidneyOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
response to stimulusOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
rhabdomyosarcomaOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
Methylmalonate semialdehyde dehydrogenase deficiencyUniProt
Pathogenic Variants6
NM_005589.4(ALDH6A1):c.1261C>T (p.Pro421Ser)Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency
β˜†β˜†β˜†β˜†2020β†’ Residue 421
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys)Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency
β˜†β˜†β˜†β˜†2013β†’ Residue 535
NM_005589.4(ALDH6A1):c.514T>C (p.Tyr172His)Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency
β˜†β˜†β˜†β˜†2013β†’ Residue 172
NM_005589.4(ALDH6A1):c.785C>A (p.Ser262Tyr)Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency
β˜†β˜†β˜†β˜†2012β†’ Residue 262
NM_005589.4(ALDH6A1):c.184C>T (p.Pro62Ser)Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency
β˜†β˜†β˜†β˜†2012β†’ Residue 62
NM_005589.4(ALDH6A1):c.1336G>A (p.Gly446Arg)Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency
β˜†β˜†β˜†β˜†2000β†’ Residue 446
View on ClinVar β†—
Related Genes
ACAA2Protein interaction100%HIBCHProtein interaction97%ACOT12Protein interaction96%ACAA1Protein interaction95%ACACBProtein interaction95%ACADSBProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Brain
46%
Heart
40%
Ovary
15%
Lung
5%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
ALDH6A1ACAA2HIBCHACOT12ACAA1ACACBACADSB
PROTEIN STRUCTURE
Preparing viewer…
PDB8XXQ Β· 2.75 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.50–0.83]
RankingsWhere ALDH6A1 stands among ~20K protein-coding genes
  • #8,640of 20,598
    Most Researched51
  • #3,394of 5,498
    Most Pathogenic Variants6
  • #7,156of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedALDH6A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Decreased propionyl-CoA metabolism facilitates metabolic reprogramming and promotes hepatocellular carcinoma.
PMID: 36462680
J Hepatol Β· 2023
1.00
2
Atlas of lysine propionylation of human right atrium and ALDH6A1-NADH pathway in new-onset atrial fibrillation after coronary surgery.
PMID: 40467924
Commun Biol Β· 2025
0.90
3
ALDH Enzymes and Hematological Diseases: A Scoping Review of Literature.
PMID: 39726306
Discov Med Β· 2024
0.80
4
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
PMID: 21863277
J Inherit Metab Dis Β· 2012
0.70
5
ABAT and ALDH6A1, regulated by transcription factor HNF4A, suppress tumorigenic capability in clear cell renal cell carcinoma.
PMID: 32093682
J Transl Med Β· 2020
0.60