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ALDH2 (Aldehyde dehydrogenase, mitochondrial) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target and an oncogene driver, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Osteosarcoma.
Mitochondrial aldehyde dehydrogenase with broad substrate specificity which participates in the detoxification of ethanol-derived acetaldehyde and endogenous aldehydes, including those arising from lipid peroxidation. The reaction mechanism involves a nucleophilic attack on the aldehyde substrate, resulting in formation of a thiohemiacetal intermediate. Subsequent hydride transfer to NAD+, yields a thioester intermediate which is hydrolysed to the carboxylic acid product through activation of a water molecule by the catalytic glutamate.
Open Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes clinical 0.42, literature 0.99, genetic association 0.61, somatic mutation 0.43, animal model 0.52). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Osteosarcoma.
In plain words · ALDH2 (Aldehyde dehydrogenase, mitochondrial) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target and an oncogene driver, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Osteosarcoma.
ALDH2 (Aldehyde dehydrogenase, mitochondrial) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target and an oncogene driver, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Osteosarcoma.
Mitochondrial aldehyde dehydrogenase with broad substrate specificity which participates in the detoxification of ethanol-derived acetaldehyde and endogenous aldehydes, including those arising from lipid peroxidation.
No product in this corpus aims at ALDH2 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ALDH2: RNA tissue enhanced (liver 801 nTPM); blood lineage group enriched (dendritic cells 214 nTPM, monocytes 213 nTPM); high antibody staining in 3 normal tissues; highest cancer staining melanoma (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt P05091; IntOGen ALDH2; Human Protein Atlas ALDH2 tissue; Open Targets ENSG00000111275 associations
First described 1985. Earliest sequence paper UniProt cites for the protein: Hempel et al, Eur. J. Biochem, 1985, "Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations". Source.
Sources: HGNC HGNC:404 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P05091 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000111275 (association with cancer (MONDO_0004992) 0.58; (GraphQL API, CC0)); IntOGen ALDH2 (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Mitochondrial aldehyde dehydrogenase with broad substrate specificity which participates in the detoxification of ethanol-derived acetaldehyde and endogenous aldehydes, including those arising from lipid peroxidation. The reaction mechanism involves a nucleophilic attack on the aldehyde substrate, resulting in formation of a thiohemiacetal intermediate. Subsequent hydride transfer to NAD+, yields a thioester intermediate which is hydrolysed to the carboxylic acid product through activation of a water molecule by the catalytic glutamate. In vivo, ALDH2 is required for the clearance of formaldehyde, a cytotoxic and carcinogenic endogenous metabolite that induces DNA damage. It also catalyses the oxidation of 3,4-dihydroxyphenylacetaldehyde (DOPAL), a reactive intermediate of dopamine catabolism, to 3,4-dihydroxyphenylacetate (DOPAC). ALDH2 may also catalyse the oxidation of 4-aminobutanal (gamma-aminobutyraldehyde) to 4-aminobutanoate (GABA), representing an alternative route for GABA biosynthesis from polyamine catabolism. Location: Mitochondrion (UniProt). Locus 12q24.12 (HGNC).
RNA: tissue enhanced (liver 801 nTPM), detected in all normal tissues. Blood: group enriched (dendritic cells 214 nTPM, monocytes 213 nTPM).
Medium: Appendix, Bronchus, Colon, Duodenum, Gallbladder, Nasopharynx, Rectum, Skin.
Medium only: breast cancer, colorectal cancer, glioma, ovarian cancer.
HPA ALDH2 tissue · HPA ALDH2 pathology · HPA protein class: FDA approved drug targets
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"ALDH2" OR ABSTRACT:"ALDH2" OR TITLE:"aldehyde dehydrogenase 2 family member" OR ABSTRACT:"aldehyde dehydrogenase 2 family member" OR TITLE:"Aldehyde dehydrogenase, mitochondrial" OR ABSTRACT:"Aldehyde dehydrogenase, mitochondrial") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about ALDH2, not a curated reading list.
Shares Osteosarcoma, Open Targets Platform.
Shares Osteosarcoma, Open Targets Platform.
Shares Osteosarcoma, IntOGen, Open Targets Platform.
Shares Osteosarcoma, IntOGen, Open Targets Platform.