ADH5

Alcohol dehydrogenase class-3 is an enzyme that in humans is encoded by the ADH5 gene.^[5][6][7]

ADH5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1M6H, 1M6W, 1MA0, 1MC5, 1MP0, 1TEH, 2FZE, 2FZW, 3QJ5
Identifiers
Aliases	ADH5, ADH-3, ADHX, FALDH, FDH, GSH-FDH, GSNOR, HEL-S-60p, alcohol dehydrogenase 5 (class III), chi polypeptide, BMFS7, AMEDS
External IDs	OMIM: 103710; MGI: 87929; HomoloGene: 68076; GeneCards: ADH5; OMA:ADH5 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q23 Start 99,070,978 bp[1] End 99,088,801 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 G3 Start 138,148,854 bp[2] End 138,161,260 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa Descending thoracic aorta stromal cell of endometrium kidney tubule corpus epididymis ascending aorta Achilles tendon popliteal artery tibial arteries ventricular zone Top expressed in primitive streak left lobe of liver Gonadal ridge endocardial cushion medullary collecting duct ureter medial ganglionic eminence vas deferens olfactory epithelium atrioventricular valve More reference expression data BioGPS n/a
Gene ontology Molecular function protein homodimerization activity zinc ion binding metal ion binding fatty acid binding formaldehyde dehydrogenase activity electron transfer activity oxidoreductase activity S-(hydroxymethyl)glutathione dehydrogenase activity alcohol dehydrogenase (NAD+) activity alcohol dehydrogenase activity, zinc-dependent Cellular component cytoplasm cytosol mitochondrion extracellular exosome Biological process respiratory system process retinoid metabolic process response to redox state positive regulation of blood pressure response to lipopolysaccharide peptidyl-cysteine S-nitrosylation response to nitrosative stress formaldehyde catabolic process ethanol oxidation electron transport chain Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 128 11532 Ensembl ENSG00000197894 ENSMUSG00000028138 UniProt P11766 P28474 RefSeq (mRNA) NM_000671 NM_001288578 NM_007410 RefSeq (protein) NP_000662 NP_001275507 NP_031436 Location (UCSC) Chr 4: 99.07 – 99.09 Mb Chr 3: 138.15 – 138.16 Mb PubMed search [3] [4]
Wikidata
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This gene encodes glutathione-dependent formaldehyde dehydrogenase or the class III alcohol dehydrogenase chi subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class III alcohol dehydrogenase is a homodimer composed of 2 chi subunits. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione.

This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis.^[7]

Clinical significance

Mutations of the ADH5 gene and ALDH2 gene cause AMED syndrome, an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, short stature, growth impairment and early development of myelodysplastic syndrome and bone marrow failure. The syndrome was first described in 2020.^[8]