ADH1B Chromosome 4

Alcohol dehydrogenase 1B (class I), beta polypeptide
2 variants 2 Protective

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What This Gene Does
The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Gene Info
Gene Group
Alcohol dehydrogenases
Locus Type
gene with protein product
Location
4q23
Ensembl
ENSG00000196616
Associated Conditions (5)
Aerodigestive tract cancer
squamous cell
alcohol-related
protection against
Alcohol dependence
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1229984 Protective protective Aerodigestive tract cancer, squamous cell, alcohol-related
RS2066702 Protective protective Alcohol dependence, Alcohol dependence
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