ADH5

Chr 4Digenic recessive

alcohol dehydrogenase 5 (class III), chi polypeptide

Also known as: ADH-3, ADHX, AMEDS, BMFS7, FALDH, FDH, GSH-FDH, GSNOR

NCBI Gene: 128 ENSG00000197894 UniProt: P11766 OMIM: 103710

The encoded enzyme catalyzes the oxidation of long-chain primary alcohols and S-(hydroxymethyl) glutathione, serving as a critical component for cellular formaldehyde detoxification. Mutations cause AMED syndrome through digenic recessive inheritance, meaning pathogenic variants in this gene combined with variants in another gene are required for disease manifestation. This gene is not highly constrained against loss-of-function variants, consistent with the requirement for digenic inheritance to produce clinical phenotypes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes 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. The encoded protein forms a homodimer. 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. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…