ADH5 Chromosome 4

Alcohol dehydrogenase 5 (class III), chi polypeptide

3 variants 3 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

Alcohol dehydrogenases

Locus Type

gene with protein product

Location

4q23

Ensembl

ENSG00000197894

Associated Conditions (2)

AMED syndrome

digenic

Key Variants

RS1727938145

Pathogenic

AMED syndrome, digenic, AMED syndrome

Health Risk

RS748162259

Pathogenic

AMED syndrome, digenic, AMED syndrome

Health Risk

RS754853545

Pathogenic

AMED syndrome, digenic, AMED syndrome

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1727938145	Health Risk	Pathogenic	AMED syndrome, digenic, AMED syndrome
RS748162259	Health Risk	Pathogenic	AMED syndrome, digenic, AMED syndrome
RS754853545	Health Risk	Pathogenic	AMED syndrome, digenic, AMED syndrome